These seem to be the most interesting snps.
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Magnitude: 4
Male.
Magnitude: 3.1
Blue eye color. Additional SNPs may have resulted in more of a green, grey or other shades. This spreadsheet is gathering more information on self reported eye color. thumb|User:Lilly Mendel's eyes thumb|User:Rghammonds's gs237 eyes thumb|User:KarenTobo's gs237 eyes
Magnitude: 3
You are heterozygous at all 3 of the SNPs which are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but that this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. A 2010 study shows the change bitter sensitivity which occurs over the lifespan (from bitter sensitive to less so) is more common in people with this genoset. Children with this genotype could perceive a bitter taste at lower PROP concentrations than could heterozygous adults. The threshold for adolescents was intermediate. The 3 SNPs are rs10246939, rs1726866, rs713598 in the gene TAS2R38.
Magnitude: 3
You have a variant linked to blue eye color, but also less common eye color variations. info@SNPedia.com is interested in a close up picture of your eye and information about your genotypes. This spreadsheet is gathering more information on eye color. See gs237 for one version of blue eyes. thumb|User:Crash1011's eyes
2 - 3x higher prostate cancer risk if routinely exposed to the pesticide fonofos
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rs1983132 is a SNP in the NEIL3 gene on ch 4, which encodes a glycosylase that can initiate base excision repair. A study of pesticide use and SNPs in ~800 prostate cancer cases revealed a significant association between men with either a rs1983132(C;T) or (T;T) genotype exposed to the pesticide fonofos and disease risk. The odds ratios and for low and high pesticide use versus no use were 1.65 (CI:0.91-3.01) and 3.25 (CI:1.78-5.92), respectively, whereas fonofos was not associated with prostate cancer risk among men with a rs1983132(C;C) genotype.
1.3x increased risk for type-2 diabetes
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The accuracy of claims about this snp are called into question by table 1 of rs7754840 replicated as significant for type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.28 (CI: 1.17-1.41, p = 4.5 x 10e-7) type-2 diabetes Carriers of the (C;G) and (C;C) genotypes of rs7754840 had 11% and 24% lower first-phase insulin release in an IVGTT compared to that in carriers of the (G;G) genotype (P=0.002). The C allele was also associated with higher glucose area under the curve in an OGTT (P=0.016). rs7754840 type-2 diabetes Ashkenazi Jewish population shows an even stronger effect for rs7754840 than the general Caucasian population, based on 1,131 cases versus 1,147 controls. This SNP was confirmed to be associated with type-2 diabetes in a study of 500+ Japanese patients plus po...
probably light-skinned, European ancestry This SNP influences skin pigmentation and indicates indicates light-skinned European ancestry. estimates that the rs1426654(A) allele (light skin pigmentation) spread through the European population around 6,000 - 12,000 years ago. Prior to that, 'European ancestors' were most likely relatively brown-skinned.
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This SNP influences skin pigmentation. The allele p.A111T, rs1426654(A), indicates light-skinned european ancestry. It appears as if this SNP is a relatively new one in human evolution; one estimate is that the rs1426654(A) allele, in other words, light skin pigmentation, spread through the European population around 6,000 - 12,000 years ago. Prior to that, 'European ancestors' were most likely relatively brown-skinned. This SNP is one of three from the SLC24A5 gene that can be analyzed to categorize the ancestry of a person as either European, African, or Asian, based on a 2009 study. The 3 SNPs are: * rs1426654 * rs2555364 * rs16960620 [OMIM:SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER]
Magnitude: 2.5
You appear to have a common genotype in the gene CYP1A2 which metabolizes coffee more slowly than some other forms. The same amount of caffeine will tend to have more stimulating effect on slow metabolizers than on fast metabolizers.
Magnitude: 2.5
You have at least 3 of the 5 genotypes which increase, by approximately 25%, the risk of prostate cancer patients dying of the disease. This does not increase your risk of getting prostate cancer, however.
1.8x increased risk of lung cancer; reduced response to alcohol, therefore possibly increased risk of alcohol abuse
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rs1051730, also known as D398N, is a SNP in the nicotinic acetylcholine receptor alpha 3 subunit CHRNA3 gene. In two recent (2008) studies, together comprising over 6,000 lung cancer patients of European ancestry, the rs1051730(T) allele was very significiantly associated with increased risk. Having one copy (i.e. being a rs1051730(C;T) genotype) increased risk for lung cancer about 1.3x, and having two copies (rs1051730(T;T) individuals) represented 1.8x increased risk. Up to 14% of lung cancer incidence may be attributable to this allele. An independent study published at the same time concluded that (T) allele carriers for SNP rs1051730 are not at higher risk of becoming smokers compared to (C) carriers. However, if they do smoke, (T) carriers are quite likely to smoke more cigarettes t...
stronger cravings for alcohol. if alcoholic, naltrexone treatment 2x more successful
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The rs1799971(G) allele in exon 1 of the mu opioid receptor OPRM1 gene causes the normal amino acid at residue 40, asparagine (Asn), to be replaced by aspartic acid (Asp). In the literature this SNP is also known as A118G, N40D, or Asn40Asp. Carriers of at least one rs1799971(G) allele appear to have stronger cravings for alcohol than carriers of two rs1799971(A) alleles, and are thus hypothesized to be more at higher risk for alcoholism. However, subsequent research results are mixed, and there are other studies both agreeing or disagreeing with this finding Among 200+ alcoholics treated with naltrexone, rs1799971(G) carriers receiving the drug (even without behavioral intervention) had an increased percentage of days abstinent (p = .07) and a decreased percentage of heavy drinking days (...
multiple associations, see details You have the VAL/VAL version of the snp discussed in this news article. It is able to perform better in a test where the optimal strategy changes.
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rs4680 (Val158Met) is a well studied SNP in the COMT gene. spittoon summarizes them as *rs4680(A) = Met, more exploratory, lower enzymatic activity *rs4680(G) = Val, less exploratory, higher enzymatic activity Roughly speaking, the predominant wisdom (known colloquially as the warrior/worrier hypothesis) posits that people with Val alleles have increased COMT activity and lower prefrontal extracellular dopamine compared with those with the Met substitution. Val158 alleles may be associated with an advantage in the processing of aversive stimuli (warrior strategy), while Met158 alleles may be associated with an advantage in memory and attention tasks (worrier strategy). Under conditions of increased dopamine release (eg, stress), individuals with Val158 alleles may have improved dopaminergi...
increased liver fat alcohol seems to be 3x more damaging to your liver than typical. Higher risk for developing fatty liver, fibrosis, and fibrosis progression, with an odds ratio of 2.55, 3.13 and 2.64, respectively. news
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rs738409 is a SNP in the PNPLA3 gene. In a Mestizo population, rs738409 is strongly associated with alcoholic liver disease and clinically evident alcoholic cirrhosis (unadjusted odds ratio 2.25, p=1.7 x 10(-10); ancestry-adjusted OR 1.79, p=1.9 x 10(-5)). rs738409(G) increased quantitative measures of liver fat content nature Nonalcoholic fatty liver disease. fat content 2x for rs738409(G;G) rs738409(G) (I148M) was strongly associated with increased hepatic fat levels (P = 5.9 times 10-10) [PharmGKB:Curated In a genome-wide association study this SNP in PNPLA3 gene was strongly associated with increased hepatic fat levels and with hepatic inflammation.] [OMIM:FATTY METAMORPHOSIS OF VISCERA] [GWAS:None]
common but 10x higher glaucoma risk This genotype is found in 2 out of 3 people, but has been repeatedly linked to a much higher risk of glaucoma. However a 2010 paper in a south african population reports reduced risk, casting some doubts.
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rs3825942, also known as G153D, a SNP causing an amino acid change in the lysyl oxidase 1 LOXL1 gene, has been linked to exfoliation glaucoma (also known as exfoliation syndrome). This form of glaucoma causes up to 10% of the cases of blindness in many countries, including the US. From the abstract of this study: 'Approximately 25% of the general population is homozygous for the highest risk haplotype and their risk of suffering XFG (exfoliation glaucoma) is over 100 times that of those only carrying low-risk haplotypes.' The risk allele for this SNP is rs3825942(C), as oriented with respect to the dbSNP entry, and it confers a estimated relative risk (by itself) of 27 compared to the (T) allele. The odds ratio is 20.10 (CI 10.80-37.41). [Note that the (C) allele is actually quite common i...
Magnitude: 2.2
You have the genotype which is suspected of not responding to multivitamins in the article at http://www.nature.com/nm/journal/v16/n9/full/nm0910-953.html There is a study seeking participants with your genotype at http://diygenomics.pbworks.com/MTHFR
increased risk of exercise induced ischemia, Increased CCL2 levels; increased rate of HIV progression
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rs1024611, also known as the -2578A>G SNP due to its position in the promoter of the monocyte chemoattractant protein-1 MCP-1 CCL2 gene, influences the production of its corresponding protein, a chemokine involved in inflammatory responses. In a study focusing on 679 apparently healthy siblings of people with premature heart disease, investigators found that carriers of an rs1024611(C) allele - oriented as in dbSNP, not as published - independently predicted the risk of exercise induced ischemia in general. The odds ratio was reported to be 1.86 (CI: 1.14-3.04, p=0.014), regardless of race, age, sex and other factors. However, it is not clear if this risk carries over to individuals who lack siblings with heart disease. discussed in the spittoon as being relevant to HIV rs1024611 is not...
4.4x increased risk of exfoliation glaucoma glaucoma risk likely to actually be based on nearby rs3825942
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This SNP, located in an intron of the LOXL1 gene, was initially reported to be associated with exfoliation glaucoma. However, it was shown in the same study to no longer be significant once two other SNPs, which cause actual changes in the LOXL1 protein, were identified. More specifically, the risk allele rs2165241(T) was found to be associated with glaucoma only because it effectively predicted (with 90% probability) the actual high-risk haplotype consisting of rs1048661(G) and rs3825942(C), as oriented with respect to their entries in dbSNP. However, a meta-analysis published in 2010 concluded that it's likely that SNPs rs1048661 and rs2165241 are not directly implicated in the pathogenesis of glaucoma; only the nearby rs3825942 seemed to be the disease-associated SNP. rs2165241 was sign...
3.9x increased risk of wet ARMD age related macular degeneration
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rs1136287, also known as Met72Thr, is a SNP in the PEDF gene. Analysis of 86 Taiwanese Chinese patients with wet age related macular degeneration (ARMD) found the (T) allele to be more frequent in patients than in controls (50% vs 31%; p =.0005). The rs1136287(T;T) genotype was also more prevalent in patients than in controls (odds ratio 3.9, p = .0015).
depression, panic, stress response This variation in a serotonin receptor has several associations that relate to stress, depression, panic and personality.
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rs6313, also known as T102C, is part of a 4-SNP haplotype in the serotonin 2A receptor gene HTR2A that has been associated with rheumatoid arthritis in a study of 1800 European patients. The risk allele is rs6313(C). The overall risk for the haplotype CTCC of SNPs rs6311-rs1328674-rs6313-rs6314 is 1.68 (CI: 1.20 - 2.34, p = 0.02). Note: the orientation of rs1328674 in dbSNP is opposite that cited by this publication; therefore, with respect to dbSNP, the haplotype of risk as cited above is CACC rather than CTCC. see also gs108 and gs226 Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder. [PharmGKB:Curated Risk or phenotype-associated allele (s): T/T. Phenotype: Patients, with a diagnosis of probable Alzheimer's disease, carryi...
apparently more prone to alcoholism interacts with the medicine Finasteride
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This SNP in the GABRA2 gene has been linked to Alcoholism. The effect of this SNP, a synonymous change at amino acid residue 132, is unknown, but it does not change the GABRA2 protein sequence. Carriers of at least one rs279858(G) allele respond slower to the effects of alcohol and are thereby apparently more prone to alcoholism than carriers of two rs279858(A) alleles. Finasteride, an FDA approved drug for the treatment of benign prostatic hypertrophy and a modulator of GABRA2, was shown to have more of a blocking effect on rs279858(A) homozygotes. Note that nearby SNPs have been grouped into a haplotype that shows statistically stronger association with alcohol dependence, namely the haplotype consisting of the rs279871(A) + rs279845(T) + rs279836(A) alleles . 1050 nicotine-dependent cas...
1.4x increased risk for diabetes (and perhaps colon cancer) 1.4x increased risk for type-2 diabetes (and perhaps colon cancer).
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This SNP in TCF7L2 influences the risk of Type-2 diabetes (T2D). This SNP is also known as IVS3C>T. rs7903146(C;T) rs7903146(T;T) strongly predicted future type-2 diabetes. Considered in context with rs7903146 rs12255372 rs10885406. Note: this is one of two SNPs within the TCF7L2 gene that have been reported to be associated with type-2 diabetes, the other being rs4506565. They have approximately equal power to estimate risk for type-2 diabetes, and the results from one correlate 92% of the time with the other. Full text of the paper is available from from Plos Medicine. Or from NCBI as . TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. reconfirmed in a diverse population Associated in a study of ~1000 Hispanic-Americans with reduced insulin secretion...
reduced memory abilities
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In a Swiss cohort: 'Carriers of KIBRA rs17070145 T allele had 24% better free recall performance 5 min after word presentation (P = 0.000004) and 19% better free recall performance 24 hours after word presentation (P = 0.0008) than did noncarriers.' In a US cohort: 'T allele carriers had significantly better memory scores than non-carriers in the Buschke's Selective Reminding Test (SRT). Performance on another episodic memory task, the Rey Auditory Verbal Learning Test (AVLT), was also significantly different between allele groups.' In another Swiss cohort, with a visual episodic memory task: 'T allele carriers also performed significantly better than did noncarriers in this population.' 'Functional magnetic resonance imaging detected KIBRA allele-dependent differences in hippocampal activ...
0.71x decreased risk for dry age related macular degeneration
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rs3775291 is a SNP in the TLR3 gene associated with an amino acid change in the corresponding protein. In the orientation as shown in dbSNP, the more common rs3775291(G) allele encodes a leucine while the rarer rs3775291(A) allele encodes a phenylalanine. rs3775291 has been associated with one form of age related macular degeneration (ARMD), specifically, the form known as 'dry' ARMD, also known as geographic atrophy. A study of 3 case-control groups of Americans of European descent, comprising about 900 ARMD patients in total, indicated that having one rs3775291(A) allele reduces the odds of having dry ARMD about 30%, and being a rs3775291(A;A) homozygote cuts your odds by more than half. Specifically, the odds ratio of having dry ARMD with one minor allele is 0.712 (CI: 0.50-1.0), and fo...
5.5x risk type-1 diabetes
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rs9272346 has been reported in a large study to be associated with type-1 diabetes. The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 5.49 (CI 4.83-6.24), and for homozygotes, 18.52 (CI 12.69-27.03). Note that the (A) allele is the most common in various human populations; instead of labeling (A) as a risk allele, we could consider the (G) allele protective. [PharmGKB:Curated GWAS results: Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. (Initial Sample Size: 3,561 cases, 4,646 controls; Replication Sample Size: 6,225 cases, 6,946 controls, 3,064 trios); (Region: 6p21.32; Reported Gene(s): HLA; Risk Allele: rs9272346-G); (p-value= 6E-129).This variant is associated with Type 1 diabetes....
mix of muscle types this genotype indicate somewhat impaired muscles
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This SNP, in the ACTN3 gene, encodes a premature stop codon in a muscle protein called alpha-actinin-3. The polymorphism alters position 577 of the alpha-actinin-3 protein. In the (C;C) genotype is often called RR. The truncated (T;T) is often called XX. (T;T) is under-represented in elite strength athletes, consistent with previous reports indicating that alpha-actinin-3 deficiency appears to impair muscle performance. The most common nucleotide at this position, (C), encodes an arginine (amino acid code R), the alternative T allele encodes a stop codon (X). Hence, the SNP is referred to as R577X, with homozygotes being either RR or XX and heterozygotes being RX. XX individuals completely lack the expression of alpha-actinin-3. An earlier report studying a relatively small number of Austr...
1.2x increased risk for type-2 diabetes
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rs10811661 replicated as significant for type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.27 (CI: 1.15-1.40, p = 1.9 x 10e-6) rs10811661 is mentioned in part 2 of a series significantly associated with type-2 diabetes p = 0.0024; in 1,630 Japanese subjects with type-2 diabetes and in 1,064 controls 1,638 type 2 diabetes patients and 1,858 controls *rs10811661 in the vicinity of CDKN2B (OR 1.20, 95% CI: 1.06-1.37, p = 0.004) T2D and normal glucose tolerant (NGT) individuals. (3,295 T2D and 3,595 NGT), strong associations with T2D were found for *CDKAL1 (OR(rs7756992) = 1.30[1.19-1.42], P = 2.3x10(-9)) *CDKN2A/2B (OR(rs10811661) = 0.74[0.66-0.82], P = 3.5x10(-8)) *IGFBP2 (OR(rs1470579) = 1.17[1.07-1.27], P = 0.0003) SNPs. T2D risk increased strongly when risk alleles, in...
normal 1.6x risk of type-1 diabetes
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rs3129934 is a SNP near the HLA-class II region that may be associated with several autoimmune diseases. In a study of two cohorts (Spanish and American multiple sclerosis patients, each numbering several hundred), rs3129934 was the SNP most associated with increased risk for multiple sclerosis. The odds ratio was 3.3 (CI: 2.3 - 4.9, p = 9 x 10e-11). Seven other SNPs were also identified in this study as associated with increased risk for MS. associated with type-1 diabetes 23andMe uses rs9273363 instead of rs3129934 in its reports on type 1 diabetes risk. This SNP was formerly used as a proxy for rs9272346, with this explanation: 'Note: the 2007 Wellcome Trust paper reported a strong association between type 1 diabetes and the SNP rs9272346. Our quality control process flagged data for rs...
cardiovascular differences This is found in high frequency male athletes from power sports such as jumpers, throwers, and sprinters. There may be negative health consequences with increased risk of cardiovascular disorders. Notably, this snp does not change the amino acid.
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The NOS3 gene encodes nitric oxide synthase 3, and is also known as eNOS; rs2070744 is a SNP in the promoter region that is associated with higher levels of the corresponding mRNA (and possibly protein). Associations for the risk allele (C) of this SNP include: * Rheumatoid Arthritis , and, * cardiovascular mortality in high-risk patients * Progression (but not occurence) of prostate cancer Men who carry the C allele responded more favorably to the antihypertensive effects of aerobic exercise Current HapMap data for this SNP appears wrong (ss42994451). The population diversity information is instead being estimated based on ss48295994 P1, and should be replaced what a new HapMap ss# is available. [PharmGKB:Curated Risk or phenotype-associated allele: C. Phenotype: Subjects carrying the eN...
happier, less sensitive to pain less sensitive to pain
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The minor allele (G) of rs25531 is almost always in phase with the long (L) allele of the 5-HTTLPR, which is the most commonly studied variation in this region. The (L) long allele may be associated with lower levels of serotonin. The article and video from 'The Atlantic' suggests that children with the short allele (A), may need and benefit greatly from more maternal support *http://www.theatlantic.com/doc/200912/dobbs-orchid-gene In contrast to earlier reports linking rs25531, a SNP in the serotonin transporter SLC6A4 gene, to obsessive compulsive disorder (OCD), a March 2007 publication finds no significant association studying 'the largest sample size of OCD patients (N=347) and controls (N=749) ever investigated'. A separate study of 75 patients suffering mood disorders after traumati...
empathy The one in four subjects who inherited a variation in this allele called G/G were significantly better at accurately reading the emotions of others by observing their faces than were the remaining three-quarters of subjects, who had inherited either a pair of A's or an A and a G from their parents at this site. Compared to the three-fourths with A/A or A/G variations, the G/G individuals were also less likely to startle when blasted by a loud noise, or to become stressed at the prospect of such a noise. And by their own reports, the G/G subjects were mellower and more attuned to other people than were the A/As or A/Gs. news ------- Effect on Parental Sensitivity Controlling for maternal education, depression and marital discord, OXTR [F (1,152)=4.32, P=0.04, partial n2=0.03] gene ...
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rs53576 is a silent G to A change in the oxytocin receptor (OXTR) gene. The blog Not Exactly Rocket Science discusses that Americans with (G;G) tend to be more sensitive parents, more empathetic and less lonely than those with an A. In a Korean population people with (G;G) were less likely to seek support from their peers. Culture, distress, and oxytocin receptor polymorphism (OXTR) interact to influence emotional support seeking. Oxytocin receptor genetic variation relates to empathy and stress reactivity in humans. With a blog summary, shows that people with the (G;G) genotype were better able to discern the emotional state of others than those who carried the A-allele. Associations between the oxytocin receptor gene (OXTR) and affect, loneliness and intelligence in normal subjects. Ox...
if a smoker, somewhat more likely to develop COPD if a smoker, somewhat more likely to develop COPD
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rs543749, also known as IVS21_22 or V-1, is a SNP in the ADAM metallopeptidase domain 33 ADAM33 gene. A study of ~600 non-Hispanic white males who smoked concluded that rs543749(G;G) carriers, i.e. those homozygous for the most common allele, were more likely (p< 0.0026, after Bonferroni correction) to develop chronic obstructive pulmonary disease (COPD) than carriers of one or two rs543749(T) alleles.
Accelerated lung decline in smokers
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This SNP, a variant in the TP53 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry. For this particular SNP, the risk (minor) allele is (C). The minor allele encodes an arginine at position 72 of the protein (where there's normally a proline), and the SNP is commonly called the Arg72 variant, although P72R and Arg72Pro are also common in the literature. Minor allele homozygotes, i.e. rs1042522(C;C) genotypes, live on average 3 years longer than major allele (G;G) homozygotes, based on a study of 9,200+ Danish individuals. The increased longevity ...
Magnitude: 2
77% of Europeans with this are able to digest lactose and dairy products. People without this are more likely to experience lactose intolerance.
Magnitude: 2
People with this genoset may carry the haplotype described in gs103 for restless leg syndrome
Magnitude: 2
possibly type A blood according to the ABO blood group types. From a molecular point of view, there are 2 A types: AA, and AO, based on whether the individual is carrying two type A alleles or one type A allele plus one type O allele.
Magnitude: 2
CYP2D6*10 reduced metabolism
Magnitude: 2
All available markers match for Haplogroup R (Y-DNA). This haplogroup has subclades under it. The most specific subclade match is the most significant. Haplogroup R (Y-DNA) represents one of two major European Y chromosome haplogroups (the other major haplogroup is Haplogroup I (Y-DNA)). The majority of European Y chromosomes belong to Haplogroup R (Y-DNA). Haplogroup R (Y-DNA) is now defined by eight mutations: * M207 = rs2032658(G) * M306 = rs1558843(A) * P224 = rs17307398(T) * P227 = rs4481791(C) * P232 = rs9786261(A) * P280 = rs891407(G) * P285 = rs17249974(A) In contrast to gs196 all available markers must agree, so a single no-call will prevent this from being recognized. This may be overly strict, and further generalizations for other testing platforms may be warranted. To prevent f...
Magnitude: 2
Those with one copy of this haplotype will likely have somewhat reduced levels of tetrahydrobiopterin. GCH1 haplotype determines vascular and plasma biopterin availability in coronary artery disease effects on vascular superoxide production and endothelial function. The haplotype rs10483639(C)-rs3783641(A)-rs8007267(T) is associated with lower levels of tetrahydrobiopterin.
Magnitude: 2
Female volunteers carrying at least one T in SNPs Rs7501331 and Rs12934922 show a 69% lower ability to convert Beta-carotene into retinyl esters.
1.45x increased osteoarthritis risk
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rs7639618 is one of several SNPs in the DVWA gene found to be associated with osteoarthritis based on a study of several Japanese patient populations. The allelic odds ratio is 1.45 (CI: 1.27-1.65, p = 2.2 x 10e-8) for the minor allele, which is the (T) allele (in dbSNP orientation). Our results suggest that the effect that DVWA amino acid changes have on tubulin binding is unlikely to influence risk of OA in Caucasians. rs7639618 with knee osteoarthritis with an odds ratio (OR) of 1.29, 95% confidence interval (CI) of 1.15 -1.45 and P of 2.70x10(-5), but not for Europeans [OMIM:OSTEOARTHRITIS SUSCEPTIBILITY 6; OS6]
drank about a third of a cup of coffee more each day than those without any copies.
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rs4410790 and rs2470893 influences habitual caffeine consumption [GWAS:None]
0.75x risk of narcolepsy compared to (A;G) genotype
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Common variants in P2RY11 are associated with narcolepsy. Found that rs2305795 G allele appears to lower the risk of narcolepsy. This SNP is also in the intronal area of the EIF3G gene.
1.5x higher risk for hypertension
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rs7961152 has been reported in a large study to be associated with high blood pressure. The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.16 (CI 1.01-1.32), and for homozygotes, 1.47 (CI 1.25-1.74). This SNP was just about the only one tested to replicate as associated with hypertension in a study of 7,551 Koreans patients, with an odds ratio of 1.28 (CI: 1.012-1.636, p=0.04) but only in one of two cohorts.
learns NoGo faster According to spittoon this genotype is better for a particular learning task.
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rs6277 (957C>T, Pro319Pro) is one of several SNPs in the dopamine receptor DRD2 gene. In a study of 300+ Russian patients with schizophrenia, the rs6277(C) allele was associated with higher risk. From a pooled meta-study (total of 4 other reports plus this one) the allelic odds ratio is 1.42 (CI: 1.26-1.61, p<0.00005), and the genotypic odds ratio for the (C;C) genotype was 1.6 (CI: 1.32-1.95, p<0.00005). Note that rs6275 and rs6277 are only 18bp apart, hence their very tight linkage (r<sup>2</sup>=1). C allele associated significantly (p = 0.021) with post-traumatic stress disorder in a sample of (assumedly Australian) 127 war veterans w/ 228 controls spittoon people with two As at rs6277(T;T) were better at NoGo learning. [pharmgkb] T allele associated with decrease ...
1.94x increased breast cancer risk
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rs1434536 is a SNP reported to potentially represent a miR-125b binding site. A study of 459 probands from a breast cancer affected sibling pair cohort were recruited from the ECOG study, and in conjunction with 1,145 patient samples from the CGEMS study, led to the conclusion that rs1434536 was associated with increased risk for breast cancer. The odds ratios for rs1434536(A;G) and (A;A) individuals were 1.29 (CI: 0.95-1.74) and 1.94 (CI: 1.40-2.71), respectively (p=1.6x10e-4).
None
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rs1805008, known as Arg160Trp or R160W, is one of several SNPs in the MC1R gene associated with red hair color (redheads), in this case in an Irish population although this has also been reported in Icelandic and Dutch populations . The risk allele is rs1805008(T), compared with the wild-type rs1805008(C) allele. blog about designing melanocortin analogs specific to these genotypes. See also OMIM 155555.0005 [OMIM:SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2]
2x-3x increased risk for Crohn's disease in Caucasians
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rs2241880, a SNP in the ATG16L1 gene encoding a threonine to alanine substitution ('T300A') in a protein known to be involved in the function of the epithelial cells lining the intestine, has been associated with Crohn's disease in several recent studies. In another recent (2007) report, rs2241880 is confirmed to be associated with both Crohn's disease and ileal disease, but additionally, the authors calculate risk for individuals who are homozygotes for this SNP plus 2 others (in the IBD5 and NOD2 genes). Individuals homozygous for the risk alleles for all 3 of these SNPs are estimated to be at 20 fold higher risk (CI ~9-49) for Crohn's disease. From the largest most recent survey, the Crohn's disease-associated SNPs for IBD5 and NOD2 are, respectively, rs6596075 and rs17221417. associate...
1.3x increased type-2 diabetes risk
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This SNP is in the TCF7L2 gene, and has been linked to type-2 diabetes, breast cancer and aggressive prostate cancer. This SNP is also known as IVS4G>T. is the paper which links it to Breast cancer. It suggests the T allele as increasing risk. reports the association of rs12255372 and rs7903146 with Type-2 diabetes in a Finnish sample. rs12255372 Common variants (rs12255372 and rs7903146) in TCF7L2 seem to be associated with an increased risk of diabetes among persons with impaired glucose tolerance Considered for type-2 diabetes with rs7903146 rs12255372 rs10885406. Associated in a study of ~1000 Hispanic-Americans with reduced insulin secretion as measured by acute insulin response and adjusted for the degree of insulin sensitivity (p = 0.036). In a study of 1,457 prostate cancer case...
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news increased risk of lung cancer in non smokers. Analysis showed that the presence of this variant significantly increased the risk of a never smoker having lung cancer by 1.46 times (odds ratio 1.46, 95% confidence interval 1.26 to 1.70). [PharmGKB:Curated Risk or phenotype-associated allele: Not specified. Phenotype: This variant was asssociated with risk for lung cancer in never smokers in a GWAS and validated and replicated in two further cohorts. Study size: 754 (GWAS); 988 (validation); 530 (replication). Study population/ethnicity: Never smokers; USA. Significance metric(s): OR = 1.46 (95% CI 1.26-1.70; p = 5.94x10(-6). Type of association: CO.]
1.2x increased risk for type-2 diabetes
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rs4402960 replicated as significant for type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.23 (CI: 1.11-1.36, p = 8.1 x 10e-5) associated with type-2 diabetes significantly associated with type-2 diabetes p = 0.00009; in 1,630 Japanese subjects and in 1,064 controls 1,638 type-2 diabetes patients and 1,858 controls *rs4402960 borderline (OR 1.10, 95% CI: 0.99-1.22). Neither rs4402960 or rs1470579 were found to be associated with type-2 diabetes in a study of 3,000 French Caucasians. This SNP was confirmed to be associated with type-2 diabetes in a study of 500+ Japanese patients plus pooled meta-analysis with 6 previous association studies (also of Japanese). Note: rs4402960 is fairly tightly linked (r<sup>2</sup>=0.87) with another IGF2BP2 gene SNP also asso...
0.18x reduced risk of developing progressive supranuclear palsy
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Each copy of the G version of rs8070723 was associated with about 5.5 times lower odds of progressive supranuclear palsy. The researchers identified smaller effects at rs1411478, rs7571971 and rs1768208. spittoon [GWAS:None]
Shorter QT interval
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rs10494366, a SNP in the NOS1AP gene encoding the nitric oxide synthase I adaptor protein, accounts for some of the variation seen in abnormal heart rhythms, in particular, the QT interval. Based on studies totaling ~4,000 individuals of Caucasian ancestry, homozygotes for one allele have shorter QT intervals, while homozygotes for the other allele have a longer QT interval. A follow-up study determined that one rs10494366(G) allele was associated with a 3.8-ms (CI: 3.0 - 4.6ms, p=7.8x10(-20)) increase in QT interval duration, and two (G) alleles had twice that increase. No increase in risk for sudden death due to a cardiac problem was associated with this SNP, though. rs10494366 minor homozygotes had a 9.3 msec longer QT interval compared to major homozygotes (p=5.7x10(-5)); rs10918594 mi...
reduced warfarin dose if treated for VTE
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Several SNPs in the VKORC1 gene have been linked to warfarin sensitivity, with perhaps the most common being this SNP rs9923231. Note that the orientation as published in scientific articles is often on the opposite strand compared to the orientation in dbSNP, so you will sometimes see it as a G>T snp. It is also known as *-1639G>A with the minus indicating that this is in an upstream promoter *3673 based on its position in GenBank accession number AY587020. *VKORC1*2. The main findings related to the treatment of venous thromboembolism (aka VTE; from hypercoagulability) with the blood thinner warfarin for this SNP are that carriers of the rs9923231(T) allele require significantly reduced doses of warfarin, and are (otherwise) at a higher risk of serious bleeding. Clinical studies de...
1.3x higher risk of ER+ breast cancer
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rs2981582 in the FGFR2 gene was one of the four strongest associations found in a genome-wide association study (GWAS) of over 4,000 breast cancer samples. The T allele was more strongly related to ER-positive (per-allele odds ratio 1.31 (CI: 1.27-1.36)) than ER-negative (odds ratio 1.08 (CI:1.03-1.14)) disease (p for heterogeneity = 10(-13)). While on its own still of fairly small effect, this was the most significant of 7 SNPs to help estimate risk of breast cancer. Family history and/or BRCA1 or BRCA2 testing status are more significant factors, which were not part of this panel. Based on a study of 1,049 Chinese breast cancer patients, carriers of risk alleles at three SNPs (rs2981582, rs1219648 and rs2420946) were at 1.36x increased risk for breast cancer (CI: 1.13-1.62, p = 0.001). A...
3.2x risk for T2D
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rs7923837 is a SNP of the HHEX homeobox gene. In several studies, it has been associated with risk for type-2 diabetes (T2D). In a study of 500 unrelated Caucasian T2D patients, the rs7923837(G) allele was overrepresented; the odds ratio was 1.57 (CI: 1.08-2.27, p=0.017). In this population, the population attributable risk for this allele was estimated to be 33%. In a study of ~400 Japanese T2D patients, rs7923837(G) was also associated with type-2 diabetes (odds ratio 1.66, CI: 1.28-2.15, p=0.00014). Heterozygous and homozygous carriers of the risk allele had odds ratios of 1.57 (95% CI 1.15-2.16, p=0.0050) and 3.16 (95% CI 1.40-7.16, p=0.0038) relative to non-carriers. rs7923837 replicated as significant for type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.27 (CI: 1...
~0.4cm taller 0.4cm taller than average
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nature SNP rs1042725 is associated with height (P = 4E-8) in a study involving over 20,000 individuals. The gene harboring this SNP, HMGA2, is a strong biological candidate for having an influence on height, since rare, severe mutations in this gene are known to alter body size in mice and humans. rs1042725 is estimated to explain approx 0.3% of population variation in height in both adults and children (approx 0.4 cm increased adult height per C allele). rs1042725 is associated with increased height (0.36 cm 95% IC[0.12-0.61] per C allele, P=0.004). in men rs1042725 may explain 3% of height variability [PharmGKB:Non-Curated GWAS Results: A common variant of HMGA2 is associated with adult and childhood height in the general population (Initial Sample Size: 4,921 individuals; Replication S...
increased risk of coronary heart disease; better response to statins
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rs2298566 is a SNP in the MYH15 gene. The risk allele in terms of heart disease is rs2298566(C). This SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD). *rs20455, in the KIF6 gene *rs3900940, in the MYH15 gene *rs7439293, in the PALLD gene *rs2298566, in the SNX19 gene *rs1010, in the VAMP8 gene For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 possible risk variants (two copies of each of the five SNPs) were assigned a GRS of 5 and those carrying no risk variants a GRS of -5. A high GRS was defined as 3 or higher. Approximately 4% of the white cohort in ARIC...
1.45 ng/mL lower Vitamin B6 blood concentration
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[PharmGKB:Non-Curated The C allele of this SNP is associated with lower blood concentration of vitamin B6 (Combined studies of Tuscan Italians ( inCHIANTI:N =1175 and Progetto Nutrizione study:N = 687) found 1.45 ng/mL lower vitamin B6 per copy of C (p = 8.3 x 10 (-18)))] [OMIM:?] [GWAS:Folate pathway vitamins]
1.7x increased risk for prostate cancer
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rs10086908 is a SNP in the 8q24 chromosomal region, which has been linked in several studies to prostate cancer. In a study of 1,563 patients of European ancestry, rs10086908 was designated as the representative of a prostate cancer risk region termed 'locus 3', with an odds ratio of 1.70 (CI: 1.39-2.07) for carriers of a risk genotype. Two other regions of chromosome 8q24 were also studied.
2.3x risk of rheumatoid arthritis
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rs6457617 has been reported in a large study to be associated with rheumatoid arthritis. This SNP is reported to be the most statistically significant of many SNPs similarly located in the MHC region. The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated with heterozygotes is 2.36 (CI 1.97-2.84), and for homozygotes, 5.21 (CI 4.31-6.30). [GWAS:Rheumatoid arthritis]
associated with higher HDL cholesterol
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G allele is associated with 0.82mg/dl increase in HDL cholesterol (good cholesterol). [GWAS:HDL cholesterol]
lower HDL cholesterol
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The (A) allele of rs326 was associated with risk for lower high-density lipoprotein (HDL) cholesterol plasma levels in 3 independent population samples, including both Caucasians and African-Americans. [PharmGKB:Curated This SNP has been associated with small changes in HDL cholesterol levels. The A allele has been correlated with lower HDL.] [OMIM:LIPOPROTEIN LIPASE; LPL] [GWAS:Triglycerides]
straighter hair
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rs499697 the minor, derived allele is associated with curlier hair curl, 0.13 points per G. [GWAS:Common traits (Other)]
associated with higher HDL cholesterol
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G allele is associated with 4.12mg/dl increase in HDL cholesterol (good cholesterol). [GWAS:HDL cholesterol]
1.5x higher risk for hypertension
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rs6997709 has been reported in a large study to be associated with high blood pressure. The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with heterozygotes is 1.20 (CI 0.94-1.52), and for homozygotes, 1.49 (CI 1.18-1.89). In a study of 7,551 Koreans, this SNP was associated with systolic and diastolic blood pressures in a quantitative trait association test but no associations were found using a case-control association test.
blue eye color, 99% of the time
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rs12913832 is a SNP near the OCA2 gene that may be functionally linked to blue or brown eye color, due to a lowering of promoter activity of the OCA2 gene. Blue eye color is associated with the rs12913832(G;G) genotype. For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.8510.06). rs12913832 is also part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, that is found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other ethnic groups. rs12913832-T (brown eye) homozygotes compared to rs12913832-C (blue eye). correlations with skin,...
increased risk of baldness slightly higher risk of baldness
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rs1385699, also known as Arg57Lys, is a SNP in the ectodysplasin A2 receptor EDAR2 gene. This gene is located on the X chromosome. The rs1385699(T) allele, which is the most common in European populations, was found to be associated with androgenetic alopecia in a case-control study of 400 males.
impaired cognitive ability impaired cognitive ability
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g2b2mh blog In a population of healthy individuals, those that carry common variants (such as rs760761, rs1018381, rs2619522) located in the dysbindin (DTNBP1) gene, a risk factor for schizophrenia, show minor cognitive impairments such as decreased attentional capacity, worse performance on memory tasks, and alterations in schizotypal beliefs and experiences. [OMIM:DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1]
1.3x risk
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rs17672135 has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated with heterozygotes is 0.70 (CI 0.61-0.81), and for homozygotes, 1.32 (CI 0.79-2.22). [PharmGKB:Non-Curated GWAS Results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,926 cases, 2,938 controls; Replication Sample Size: (see Samani 2007); Risk Allele: rs17672135-C). This variant is associated with coronary disease.] [GWAS:Coronary disease]
Two copies of CYP2A6*5 non-functioning variant; impaired nicotine metabolism
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rs5031017 in the CYP2A6 gene, also known as G479V, 1436G>T or 6582G>T, the T allele indicates the CYP2A6*5 inactive form of the gene. reports that poor metabolizers (such as those with inactive forms of CYP2A6), among male smokers and compared to normal smokers, smoked fewer cigarettes, took longer to smoke regularly, and if they had stopped smoking, waited a shorter period of time before making the decision. Unfortunately, this group also had a lower likelihood of smoking cessation.
Carrier of one CYP2D6 decreased or non-functioning variant. Your body may have a reduced ability to process some medicines. You are a carrier for rs1065852(T;T)
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The wild type (normal) allele at this SNP is (C). The (T) variant indicates the presence of a non-wild type CYP2D6 variant, but it appears in many different variants so it can not be used to determine the presence of any particular variant. The most common variants it appears in are CYP2D6*10 and CYP2D6*4, but these are not the only ones. While this is the defining mutation for CYP2D6*10, it is not possible by itself for this mutation to determine a particular variant. In addition, the CYP2D6*4 variant includes this mutation, but the defining mutation 1846G>A SNP is not available in the common direct to consumer testing services. While it is not possible for this mutation to identify one particular variant, all the variants in which it appears have reduced or no CYP2D6 activity. If two ...
2x increased risk for periodontitis
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rs1537415 is an intronic SNP in the glycosyltransferase 6 domain containing 1 GLT6D1 gene. In a combined study of 1,758 Dutch and German subjects, the rs1537415(G) allele was associated with increased risk for periodontitis, at an odds ratio of 1.59 (CI: 1.36-1.86, p=5.5x10e-9).
Homozygous for CYP2D6 variants (non-CYP2D6*1)
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rs1135840, also known as 4180G>C or S486T, is a SNP in the CYP2D6 gene. The wild type (normal) allele at this SNP is (G). The (C) variant indicates the presence of a non-wild type CYP2D6 variant, but it appears in many different variants so it can not be used to determine the presence of any particular variant. Please be careful when interpreting results for this SNP as it is in dbSNP and SNPedia in minus orientation where the risk allele is C, but test results are usually in plus orientation where the risk allele is G. This SNP has an ambiguous flip which can make this very confusing. [PharmGKB:Curated Risk or phenotype-associated allele: T. Phenotype: The CYP2D6*2A haplotype was associated with lower incidence of breast cancer on tamoxifen compared to placebo in a prevention study. T...
1.9x increased risk for stomach & esophageal cancer (seen in Han Chinese)
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rs2274223 is a SNP in the phospholipase C, epsilon 1 PLCE1 gene. In a large study of Han Chinese esophageal cancer patients [specifically esophageal squamous cell carcinoma (ESCC)], the rs2274223(G) allele was associated with greater risk (odds ratio 1.43, p = 7.4 x 10e-56).In this same study [http://www.nature.com/ng/journal/vaop/ncurrent/ris/ng.648.ris, rs2274223(G) was also associated with greater risk for gastric cancer (aka stomach cancer), with an odds ratio of 1.55 (1.74 x 10e-39). [OMIM:?] [GWAS:None]
Magnitude: 1.8
The haplotype A-A-G for SNPs rs3794808, rs140701 and rs4583306 has a 1.7x increased risk for panic disorder. However it seems quite common among the promethease reports.
1.3x increased risk for osteoarthritis
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rs143383 showed significant association with hip osteoarthritis in two independent Japanese populations. It also showed association with knee osteoarthritis in Japanese and Chinese populations. is *not* a risk factor for osteoarthritis in Greek Caucasians A subsequent study showed that the same risk allele, rs143383(T), was (somewhat) associated with osteoarthritis in European populations. The odds ratio was 1.10 for the allele, 1.28 for carrier status (p=0.03, p=0.004, respectively). The (T) allele appears to make less GDF5 protein, which eventually renders an individual somewhat more susceptible to osteoarthritis. A meta-analysis combining data from 11,000+ individuals as well as both European and Asian populations found strong evidence (p < 0.0004) confirming increased risk for osteo...
>3x increased testicular cancer risk for men found in 65% of caucasians but linked 3x higher risk of testicular cancer than the (G;G) form.
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Testicular germ cell tumor risk I('TGCT'; i.e. testicular cancer risk) was increased 3x per copy of the major (A) allele at rs3782179 and rs4474514 (OR = 3.08, CI: 2.294.13; OR = 3.07, CI = 2.294.13, respectively), based on a genome-wide scan of 277 primarily Caucasian TGCT cases and 919 controls. Men who have two copies of the common version of the c-KIT ligand KITLG gene have a 4.5-fold higher risk of testicular cancer than men who have two copies of the less common or minor version of the gene. SNPs from the same gene were also implicated in testicular cancer risk in a study of 730 cases and 1,435 controls from the UK and replicating associations in a further 571 cases and 1,806 controls. [OMIM:?]
Magnitude: 1.7
suggests you may be able to tolerate more pain than most people. However phased data may be necessary to increase certainty. See also gs232 gs233 gs234 gs235
Magnitude: 1.7
suggests you may be able to tolerate less pain than most people. However phased data may be necessary to increase certainty. See also gs232 gs233 gs234 gs235
Increased risk of hearing loss 5.2x risk of Age Related Hearing Impairment(ARHI), also known as presbycusis. This applies to the European and Turkish, but not Finnish populations.
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rs1799930 is a SNP in the NAT2 gene, potentially encoding a variant detoxifying protein known as an N-acetyltransferase, but which NAT2 variant depends on which other NAT2 SNPs were also inherited. See the discussion of the NAT2 gene for a more complete explanation. Also known as G590A. The risk allele for this SNP is rs1799930(A). [PharmGKB:Curated in vitro study; PK: 22-fold reduction in Vmax vs wild type] [OMIM:?]
common, but 2.2x higher risk for heart disease
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rs8055236 has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with heterozygotes is 1.91 (CI 1.33-2.74), and for homozygotes, 2.23 (CI 1.56-3.17). [PharmGKB:Non-Curated GWAS Results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,926 cases, 2,938 controls; Replication Sample Size: (see Samani 2007); Risk Allele: rs8055236-G). This variant is associated with coronary disease.] [GWAS:Coronary disease]
1.6x increased risk for Parkinson's disease
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rs356219, a tagging SNP in the SNCA gene for a Parkinson's disease associated haplotype, predicts the amount of SNCA (alpha-synuclein) mRNA found in post mortem substantia nigra and cerebellum brain tissue. replicates the association of rs356219 with late-onset Parkinson's disease, calculating an odds ratio of 1.3 (CI: 1.13 - 1.5, p=2x10e-4) per rs356219(G) allele among the 1145 patients from northern Spain studied. [OMIM:SYNUCLEIN, ALPHA; SNCA] [GWAS:None]
Magnitude: 1.5
NAT2 Intermediate metabolizer source Generally this means a person is carrying one rapid (normal) NAT2 allele plus one slow allele. This appears to be the most common form. Intermediate acetylators may benefit by slightly lower than average drug dosages of the drugs metabolized by NAT2 for optimal therapeutic response.
Magnitude: 1.5
15 point drop in blood pressure when taking the beta blocker metoprolol due to rs1801252(A;A) and rs1801253(C;C):
This SNP seems to influence perception of pain
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rs6746030 is a SNP in the sodium channel Nav1.7 SCN9A gene. In five cohorts tested, totaling 1,277 individuals, the rarer rs6746030(A) allele was associated with increased pain (p=0.0001).
normal, but higher risk for several conditions ostensibly the 'normal' form, however variation is common, and each genotype seems to show some good and bad consequences.
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rs5443, a SNP in the G-protein beta3 subunit (GNB3) gene that is more commonly known as the C825T variant, has been linked to a number of metabolic conditions including obesity, coronary artery disease, insulin resistance and therefore diabetes, left ventricular hypertrophy, and hypertension. It has also been linked to how well a patient responds to Viagra (sildenafil). Several studies have been unable to replicate one or more of the associations in at least some populations between this SNP and these conditions. The more notable studies include: *rs5443(T) allele carriers are 2-3 fold more likely to be obese in Caucasian, Chinese, and African American populations. *rs5443(T) carriers are clearly at higher risk for hypertension, but this review indicates that whether they are also at incre...
1.75x increased risk for Alzheimer's disease in females (as compared to (G;G) females)
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rs5984894 is a SNP located within an intron of the protocadherin 11 PCDH11X gene, on the X chromosome. A study of 2,391 patients with late-onset Alzheimer's disease reports that rs5984894 is particularly associated with increased risk for the disease in females, as compared to males. In this study, the patients were Americans of European descent, and 62% were female. Odds ratios were 1.75 (CI: 1.422.16) for female homozygotes (p = 2 x 10e-7) and 1.26 (CI: 1.051.51) for female heterozygotes (p = 0.01) compared to rs5984894(G;G) females. For male rs5984894(-;A) hemizygotes (p = 0.07, which may mean this is insignificant since it is above the traditional cut-off of 0.05) compared to male rs5984894(-;G) noncarriers, the odds ratio was 1.18 (CI: 0.991.41). A more recent and independent - but...
increased risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The G allele was associated with an increased risk of schizophrenia.
1.7x higher risk of aggressive neuroblastoma
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Each G allele has been associated with an allelic odds ratio of 1.68 (p = 8.65 x 10(-18)) for risk of aggressive neuroblastoma. [OMIM:NEUROBLASTOMA]
0.85x decreased risk for Alzheimer's disease
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rs3851179 is a SNP upstream of the PICALM gene. A study of over 5,000 Alzheimer's disease patients (and over 10,000 controls) found a slight protective effect of the (A) allele of this SNP. rs3851179(A) carriers had a slightly decreased risk for Alzheimer's disease, with an odds ratio of 0.85 (CI: 0.8-0.9, p=1.9x10e-8). The association of this SNP and late-onset Alzheimer's disease was replicated over a total of another 1829 cases (and 2576 controls). [GWAS:Alzheimer's disease]
57% of you can smell asparagus metabolites in urine
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Asparagus anosmia research was performed by 23andMe and presented at the 2009 ASHG according to geneticfuture. Asparagus anosmia [GWAS:Common traits (Other)]
~1.5x increased risk for chronic lymphocytic leukemia
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rs872071 is a SNP associated with the interferon regulatory factor 4 IRF4 gene. In a GWAS study including over 1,500 Caucasian patients with chronic lymphocytic leukemia (CLL), the rs872071(G) allele showed the strongest association (p = 1.91 x 10e-20) of all SNPs studied. The reported odds ratio was 1.54. See also: spittoon A subsequent study () has found a similar association extending to another 800+ Spanish and Swedish CLL patients. rs872071 was also seen to be associated with CLL in Hong Kong Chinese (71 patients), with a reported odds ratio of 1.78 (CI: 1.25-2.53). A related hematologic malignancy, Hodgkin's lymphoma, may also be influenced by rs872071. Two case-control series totalling 529 and 2192 patients found an odds ratio of 1.21 (CI: 1.05-1.39, p = 0.009). [PharmGKB:Non-Curat...
increased risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The T allele was associated with an increased risk of schizophrenia.
decreased risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The G allele was associated with a decreased risk of schizophrenia.
associated with higher HDL cholesterol
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C allele is associated with 1.51mg/dl increase in HDL cholesterol (good cholesterol).
associated with higher HDL cholesterol
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C allele is associated with 1.87mg/dl increase in HDL cholesterol (good cholesterol). [PharmGKB:Non-Curated GWAS results: Common variants at 30 loci contribute to polygenic dyslipidemia. (Initial Sample Size: 19,840 individuals; Replication Sample Size: Up to 20,623 individuals); (Region: 18q21.1; Reported Gene(s): LIPG; Risk Allele: rs4939883-T); (p-value= 0.000000000000007).This variant is associated with HDL cholesterol.] [GWAS:Cholesterol, total]
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anxiety-related personality traits, ADHD, schizophrenia part of a three marker haplotype rs737865-rs4680-rs165599 epistasis between SNPs in COMT (rs2097603, Val158Met (rs4680), rs165599) and polymorphisms in other schizophrenia susceptibility genes popular in pubmed is associated with bipolar disorder and influences prefrontal aspects of verbal memory in bipolar patients and healthy controls. [PharmGKB:Curated In a study of 78 African American and 65 white patients diagnosed with schizophrenia or schizoaffective disorder, this SNP in the COMT gene was found to have significant associations with response to risperidone over 2-12 weeks in both African-American and white patients.] [OMIM:CATECHOL-O-METHYLTRANSFERASE; COMT]
Paternal Haplogroup: R1b1b2a1a2
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Since R1b1c is very common, the first interesting discovery involved a SNP in that haplogroup, rs34276300, which was found to be ancestral in one branch of R1b1c and derived in several other branches. [http://dna-forums.org/index.php?showtopic=2909&pid=42643&st=40 dna-forums.org discussion According to a 23andMe discussion, this is one of the SNPs that were re-analyzed in April 2009. Customers with older data may wish to redownload. SNPs affected: * rs4420638 * rs34276300 * rs3091244 * rs34601266 * rs2033003 * rs7900194 * rs9332239 * rs28371685 * rs1229984 * rs28399504. [haplogroup:?]
1.5x increased risk for thyroid cancer
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rs1867277, also known as -283G>A, is a SNP upstream of the FOXE1 gene. Based on ~1,000 thyroid cancer patients (and an equal number of controls), a per allele odds ratio of 1.49 (CI: 1.30-1.70, p=5.9x10e-9) was found for the rs1867277(A) allele. This allele is thought to be a causal variant.
~1.4x increased risk of hypertension
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rs5186, a SNP known as +1166A/C or A1166C, is located in the 3' untranslated region of the angiotensin II receptor type 1 gene AGTR1, which is also known as AT2R1 or AT1R. It is among the most studied of over 50 SNPs in AGTR1. The rs5186(C) allele is associated with increased risk for essential hypertension in Caucasian populations with an odds ratio of 7.3 (homozygote (C;C) compared to (A;C) and (A;A), CI: 1.9-31.9,p=0.0015). There are likely to be ethnic differences in risk; while the rs5186(C) allele was associated with hypertension in a Chinese population , it was not been observed as a risk in a Japanese population. Age and gender may also influence risk, as discussed in a review of AGTR1 SNPs and their role in hypertension and related disorders. Pregnant women who are rs5186(C) allel...
1.3x increased risk for type-2 diabetes
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rs5219, also known as E23K, is a SNP in the KCNJ11 gene. The association between type-1 diabetes and rs5219 is mentioned as being replicated in ; there is also a 90% correlation between rs5219 and rs5215. This SNP is one of 4 relatively common SNPs reported to represent risk for type-2 diabetes in the DESIR prospective study of 3,877 Caucasian participants. Under an additive model, the odds ratio for the minor (risk) allele (T) is 1.15 (CI: 0.95-1.4, p=0.2, ie not significant). But for the 4 SNPs, each risk allele increased type-2 diabetes risk by 1.34x (p=2x10e-6), with an odds ratio of 2.48 (CI: 1.59-3.86) for carriers of 4 or more compared to those with one or none (risk alleles). Genotyping of ~4000 Chinese as well a meta-analysis concluded that rs5219 was associated with type-2 diabet...
1.4x higher risk for glioma development
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rs4977756 is a SNP near the CDKN2BAS gene. A (GWA) study for open-angle glaucoma (OAG) blindness ultimately based on ~1500 cases concluded that the rather common rs4977756(A) allele was statistically associated with the condition, with a per allele odds ratio of 1.39 (CI: 1.281.51, p = 1.35 10e?14). [OMIM:?] [GWAS:Glioma]
1.4x increased risk for breast cancer
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rs1126497, also known as Thr115Met, is a SNP in the epithelial cell adhesion molecule EPCAM gene. In a study of case control study of 1643 individuals with breast cancer and 1818 control subjects in Eastern and Southern Chinese populations, the rs1126497(T) allele was associated with a 1.4x increased risk (CI: 1.16-1.57), and it was also associated with early breast cancer onset (p=0.0023).
0.71x lower risk for spondylitis
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rs10050860 is one of several SNPs in the ERAP1 gene that has been shown in a large (over 1,000 Caucasian patients) study to be associated with ankylosing spondylitis. The odds ratio is 0.71 (p=7.7x10e-9).
1.4x increased risk for meningioma
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rs12770228 is a SNP in a region on ch 10p12.31 designated as the chromosome 10 open reading frame 114 C10orf114; it is just upstream of the MLLT10 gene. A study of ~1,600 patients with meningioma, all of European ancestry, concluded that increased risk for the disease was associated with rs12770228(A) alleles. The odds ratio was 1.37 (CI: 1.18-1.59, p = 4 x 10e-4). A nearby SNP, rs11012732, was also linked to meningioma risk.
1.4x increased breast cancer risk
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rs2046210 is a SNP upstream of the estrogen receptor alpha ESR1 gene. A study of ~7,000 breast cancer cases among Chinese women concluded that rs2046210 was associated with increased risk for the disease; the odds ratio was 1.59 (CI: 1.4-1.82) and 1.36 (CI: 1.24-1.49) for homozygote and heterozygote carriers of a (T) allele (in dbSNP orientation), respectively. A pooled analysis of 31,000+ women found a positive association for rs2046210 and breast cancer risk in Chinese women (odds ratio 1.30, CI: 1.22-1.38, and 1.64, CI: 1.50-1.80, for the CT and TT genotypes (in dbSNP orientation), respectively, p(trend) = 1.54 10e-30), Japanese women (1.31, CI: 1.13-1.52, and 1.37, CI: 1.06-1.76, p(trend) = 2.51 10e-4), and European-ancestry American women (1.07, CI: 0.99-1.16, and 1.18, CI: 1.04-1...
2.5x increased risk for chronic kidney disease in a small unreplicated study
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rs6495446, an intronic SNP in the MTHFS gene, was associated with increased risk for chronic kidney disease based on a study associated with the Framingham Heart Study of ~1,000 Caucasian individuals. The odds ratio rs6495446(C) allele was 1.24 (CI: 1.09-1.41, p=0.001).news 23andMe reports this same information with a different emphasis: each T allele lowers the odds of chronic kidney disease by 0.8 times.
1.4x increased risk for schizophrenia
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spittoon schizophrenia *rs3131296(C) increased the odds of schizophrenia by 1.19x *rs12807809(T) increased the odds of schizophrenia by 1.15x *rs9960767(C) increased the odds of schizophrenia by 1.23 times. A study of ~2,500 Han Chinese patients with schizophrenia did find rs3131296 to be significantly associated in this population. [GWAS:Schizophrenia]
1.3x higher risk for endometrial cancer (in Chinese women)
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Category:interestingrs34330 shows an association with breast cancer in a British study involving ~2300 patients. The odds ratio for the (T;T) vs (C;C) homozygotes is 1.22 (CI: 1.02-1.47, p=0.013). found a significant association between rs34330 (-79C/T) and prostate cancer found higher odds for endometrial cancer among 1,200+ Chinese patients associated with rs34330, with an odds ratio of 1.33 (CI: 1.06-1.66) and 1.51 (CI: 1.16-1.94) for the (C;T) and (T;T) genotypes, respectively, compared with the (C;C) genotype. see also omim 176807 [OMIM:CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B]
1.3x higher risk for schizophrenia (among Han Chinese)
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rs2024513 is a SNP in the neurexin-1 NRXN1 gene on chromosome 2p16.3. Based on a case-control study of 700+ Han Chinese patients with schizophrenia, rs2024513(A) was associated with higher risk, at an odds ratio of 1.3 (CI: 1.07 - 1.56, p=0.006).
1.3x increased risk for neuroblastoma
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rs110419 is a SNP in the LMO1 LIM domain only 1 (rhombotin 1) gene. A GWAS study of 2,000+ patients (and 6,000+ controls) concluded that the rs110419(A) allele is associated with increased risk for neuroblastoma, with an allelic odds ratio of 1.34 (CI: 1.251.44, combined p = 5.2??10e?16).
1.3x increased risk for preeclampsia in most populations Note that this is relevant to the fetal genotype, not the maternal genotype
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rs2549782 is a SNP in the endoplasmic reticulum aminopeptidase 2 ERAP2 gene. A case-control study of 1103 Chilean maternal-fetal dyads and 1637 unpaired African American samples (836 maternal, 837 fetal) concluded that the fetal minor allele rs2549782(G) was associated with 1.3x increased risk (CI: 1.075-1.619) for preeclampsia in the African American population (p = 0.009), but not in the Chilean population.
1.3x higher risk for glioma development
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spittoon rs2736100 C 1.27 Glioma [PharmGKB:Non-Curated A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. (Initial Sample Size: 159 Japanese cases, 934 Japanese controls; Replication Sample Size: 83 Japanese cases, 535 Japanese controls); (Region: 5p15.33; Reported Gene: TERT; Risk Allele: rs2736100-A) This variant is associated with Idiopathic pulmonary fibrosis.] [OMIM:LUNG CANCER SUSCEPTIBILITY 3; LNCR3] [GWAS:Idiopathic pulmonary fibrosis]
1.3x increased risk for age-related macular degeneration
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rs1047286 is a SNP in the complement component C3 gene. A 2011 meta-analysis of seven studies concluded that, at least for Caucasians, the rs1047286(C;T) and (T;T) genotypes had 1.27 (CI: 1.15 - 1.41) and 1.70 (CI: 1.27 - 2.11) times higher risk of ARMD than did (G;G) genotypes. [OMIM:C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE]
slightly increased risk (1.25) for lung cancer
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In a GWAS dataset of 1,447 lung cancer cases, and then replicated in another 1300 cases, the rs748404(T) allele was significantly correlated with increased risk (odds ratio 1.15, p = 1.1 10e-9), in agreement with a previous meta-analysis.
Magnitude: 1.2
normal tasting ability for bitterness
>3x increased testicular cancer risk for men
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Testicular germ cell tumor risk I('TGCT'; i.e. testicular cancer risk) was increased 40% per copy of the major allele (C) at rs4324715 and rs6897876 (OR = 1.37, CI: 1.141.64; OR = 1.39, CI: 1.161.66, respectively), based on a genome-wide scan of 277 primarily Caucasian TGCT cases and 919 controls. Men who have two copies of the common version of the sprouty 4 SPRY4 gene have a 1.5-fold higher risk of testicular cancer than men who have two copies of the less common or minor version of the gene. [doi|10.1038/ng.393]
1.41x risk for breast cancer
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rs2056116 is a somewhat unusual SNP, in that it is from an 'ultraconserved element' of the genome, meaning it is from a stretch of over 200 base pairs that is absolutely identical between equivalent regions of human, mouse, and rat genomes. The functions of these elements is unknown, but they are thought to have regulatory roles of various sorts. They usually have less SNPs on average than other regions of the genome. The (G) allele of rs2056116 was found to be associated with higher risk for breast cancer, with an odds ratio of 1.18 (CI: 1.06-1.30, p=0.002). The odds ratio for the (G;G) genotype compared to the (A;A) genotype was 1.41 (CI: 1.15-1.74, p=0.0011). When patients were divided into younger vs older women, the odds ratios were increased for women under 50 years of age; for the (...
Associated with (slightly) increased coffee consumption
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rs2472297 is a SNP located between the CYP1A1 and CYP1A2 genes on ch 15q24. A meta-analysis of four GWAS studies of coffee consumption among a total of ~8,000 coffee drinkers of European ancestry found that the rs2472297(T) was strongly associated with increased consumption (p = 5.4 x 10e-14). The estimated effect was an increase of 0.2 cups a day per allele for both this SNP and one other (rs6968865).
1.2x higher risk for glioma development
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spittoon rs498872 A 1.18 Glioma [GWAS:Glioma]
1.2x higher risk for glioma development
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spittoon rs6010620 G 1.28 Glioma [OMIM:?] [GWAS:Glioma]
1.2x higher risk for ankylosing spondylitis
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rs10865331 is a SNP in chromosomal region 2p15. After initial GWAS reports linked this SNP to ankylosing spondylitis (AS), a follow-up study in 456 Spanish patients replicated the association between the rs10865331(A) allele and higher risk for AS (p = 0.039). In a 2010 report, the AA genotype was associated with 1.3x odds of ankylosing spondylitis, and the GG genotype with 0.8x odds, compared to the AG genotype. [OMIM:?] [GWAS:Ankylosing spondylitis]
1.2x increased risk for ovarian cancer
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rs2072590 is a SNP on chromosome 2q31, in a noncoding region ~5 kb distal to the HOXD3 gene and ~10 kb proximal to HOXD1. A genome-wide association study ultimately including over 10,000 ovarian cancer patients found statistically strong (p = 3.8 10e?14) evidence for slightly elevated risk associated with the rs2072590(T) allele, with an odds ratio of 1.20 (CI: 1.141.25) as calculated for the serous subtype (of ovarian cancer), though it was significant for the other subtypes as well. [GWAS:None]
0.75x (reduced) risk for metastasis in LN-/ER+ breast cancer patients
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rs9306160, also known as Pro436Leu, is a SNP in the ribosomal RNA processing 1 homolog B RRP1B gene. In a study of 1,725 LN=/ER+ breast cancer patients, carriers of a rs9306160(T) allele showed a reduced metastasis risk compared to rs9306160(C;C) patients. This association was statistically significant for both disease-free survival (DFS) and metastasis-free survival (MFS) in multivariate analysis [DFS hazard ratio 0.75, CI: 0.600.94, p=0.013), MFS HR 0.70, CI: 0.540.91, p=0.009) and overall survival (HR 0.78, CI:0.591.03, p=0.082)]. This study also found that rs9306160 can be combined with an independent predictor of metastasis free survival, rs2448490, to yield an even stronger prognostic. Specifically, the risk for developing distant metastasis was about 2.5-fold lower (hazard ratio ...
>1.9x risk for restless legs
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This SNP, located in an intron of the BTBD9 gene, has a variant that is seen somewhat more frequently in individuals with restless legs syndrome. The risk allele is rs3923809(A); carriers of two such alleles, i.e. those with rs3923809(A;A) genotypes, are estimated to be 1.9 fold more likely to have restless legs syndrome than rs3923809(G;G) individuals. The authors of this study suggest that perhaps half of the cases of restless legs syndrome may involve the rs3923809 risk genotypes. Consistent with this finding, another report about rs3923809 links the (G) minor allele to a lower frequency of restless legs syndrome with an overall odds ratio of 0.57 (CI: 0.48-0.68). Note that 70-80% of all individuals in European populations carry one or two copies of the (A) major allele, yet restless le...
1.2x increased risk for prostate cancer
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rs351855, a SNP in the fibroblast growth factor receptor 4 (FGFR4) gene, is also known as the Gly388Arg variant. The rs351855(T) allele encodes the risk (Arg) allele. The Arg form of this SNP is likely to cause a harder to treat version of node-positive breast cancer, including reducing the efficacy of Herceptin, based on a study of 372 patients. A study of ~500 Japanese prostate cancer patients found that individuals with a rs351855(T;T) genotype had a 2.2- and 1.9-fold increased risk of prostate cancer and benign prostate hyperplasia (BPH), and a 1.8-fold increased risk of metastatic prostate cancer compared to the (C;C) genotype. A meta-analysis published in 2011, surveying a total of 2,618 cases of prostate cancer, concluded that the odds ratio per rs351855(T) allele was 1.17 (CI: 1.07...
decreased risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The C allele was associated with an decreased risk of schizophrenia. [PharmGKB:Curated This variant along with 3 other SNPs near DRD4 (4 SNP haplotype: rs3758653; rs916457; rs762502; rs11246226) is associated with tardive dyskinesia in male schizophrenia patients.]
more likely to go bald before age 40 more likely to go bald before age 40
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male-pattern baldness. Full text available. *G less likely to go bald before age 40 *A more likely to go bald before age 40
increased risk of baldness more likely to go bald
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when used as part of gs122 this snp can influence male pattern baldness. Initial Sample Size: 578 cases, 547 controls Replication Sample Size: 1,351 cases, 2,485 controls Alopecia is readable, while the nature article is behind a paywall. This is one of the snps in gs122 [PharmGKB:Non-Curated GWAS results: Male-pattern baldness susceptibility locus at 20p11. (Initial Sample Size: 578 cases, 547 controls; Replication Sample Size: 1,351 cases, 2,485 controls); (Region: Xq12; Reported Gene(s): AR; Risk Allele: rs6625163-A); (p-value= 0.00000000005).This variant is associated with Male-pattern baldness.] [GWAS:Male-pattern baldness]
more likely to go bald more likely to go bald
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Along with rs201571 serves as a proxy for rs1160312. related to baldness
1.17x higher risk for myocardial infarction
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rs17465637 is a SNP found to be associated with heart disease by the German MI (Myocardial infarction) Family Study group This 2011 study concluded that the only MIA3 gene SNP to be associated with increased risk for myocardial infarction is rs17465637, with an odds ratio of 1.17 (CI: 1.04-1.32) and 1.37 (CI: 1.08-1.74) for carriers of one or two (C) alleles, respectively. spittoon coronary artery disease and heart attack SNP Risk Version Effect *rs646776 T 1.19 *rs17465637 C 1.14 *rs1746048 C 1.17 *rs6725887 C 1.17 *rs11206510 T 1.15 *rs3184504 T 1.13 *rs2306374 C 1.15 *rs3782886 C 1.44 [PharmGKB:Curated GWAS results: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. (Initial Sample Size: 2,967 cases, 3,075 control...
slightly lower risk for hypertension
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rs13333226 is a SNP in the 5' region of uromodulin UMOD gene. A large GWAS study ultimately totaling over 20,000 cases and almost as many controls concluded that, compared to the far more common allele, the rarer rs13333226(G) allele is associated with a (slightly) lower risk of hypertension (odds ratio 0.87, CI: 0.84-0.91) as well as a 7.7% reduction per allele for risk of cardiovascular events after adjusting for age, sex, BMI, and smoking status (hazard ratio?0.923, CI: 0.860-0.991; p?=?0.027).
0.85x lower risk for migraines
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rs10166942 is a SNP on ch 2q37.1 in the TRPM8 gene. A large GWAS study of over 5,000 patients with migraines and a meta-analysis concluded that this SNP was one of three influencing the condition, albeit with only slight risk changes on its own. The odds ratio for the less common rs10166942(C) allele was 0.85 (CI: 0.82 - 0.89, p = 5.5 x 10e-12). [GWAS:None]
1.15x increased risk for late-onset Alzheimer's
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rs3818361 is a SNP associated with the complement component (3b/4b) receptor 1 CR1 gene. The association of this SNP and late-onset Alzheimer's disease was replicated over a total of another 1829 cases (and 2576 controls). The odds ratio for rs3818361(T) allele was 1.15 (note the p value was 0.014). [GWAS:None]
Very slightly higher risk for breast cancer
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rs889312 is a SNP near the MAP3K1 gene. rs889312 was one of the four strongest associating SNPs found in a genome-wide association study of over 4,000 breast cancer samples. . From a DeCode user report, it appears that the risk allele is C; this A;A individual reportedly has 0.93x risk of breast cancer. In a study of 1,267 breast cancer patients, rs889312 heterozygotes and minor allele homozygotes were less likely to be lymph node positive at breast cancer diagnosis (P = 0.044) relative to major allele homozygote carriers. A meta-analysis including 26,015 cases and 33,962 controls concludes that the rs889312(C) allele is clearly a significant - but quite weak - contributor to increased risk for breast cancer. breast cancer *rs2981582, rs3803662, and rs889312) showed weak but significant as...
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SNPs in the SNAP25 gene were initially linked to intelligence but have failed to replicate . While now suspect, the original work can be found in . The (A;A) genotype averaged 2.84 PIQ points higher than the (A;G) genotype, which averages 2.8 PIQ points higher than the (G;G) genotype (p=0.0002). Variance in this SNP may account for 3.4% of the phenotypic variance in PIQ. rs363050 is in close linkage with rs353016, with r2 = 0.98, such that the rs363050(A) allele typically is linked to the rs353016(T) allele. For SNPs rs363039 - rs363043 - rs353016, respectively, the haplotype C-T-T is most associated with higher intelligence in children, whereas the haplotype C-C-T is most associated in adults (SNPs oriented as in dbSNP).
0.9x lower risk for migraines
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rs11172113 is a SNP on ch 12q13.3 in the LRP1 gene. A large GWAS study of over 5,000 patients with migraines and a meta-analysis concluded that this SNP was one of three influencing the condition, albeit with only slight risk changes on its own. The odds ratio for the less common rs11172113(C) allele was 0.9 (CI: 0.87 - 0.93, p = 4.3 x 10e-9). [GWAS:None]
1.1x increased risk for schizophrenia
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rs1344706 is a SNP in the ZNF804A gene, and it is probably the first SNP to have been reported as achieving genome-wide significance for psychosis. Reviews the literature, and concludes that rs1344706 is 'robustly, if modestly' associated with increased risk for schizophrenia. A genome-wide association study of schizophrenia (479 cases, 2,937 controls) followed by additional testing and a meta-analysis concluded that the strongest evidence for association was around ZNF804A (rs1344706; p = 1.61 x 10e-7) and that the finding was strengthened when the affected phenotype included bipolar disorder (p = 9.96 x 10e-9). [PharmGKB:Non-Curated Rs1344706, found in a separate GWAS to be associated with schizophrenia, was investigated here by Functional Magnetic Resonance Imaging. In 115 healthy Germ...
increased risk of parkinson's disease While this does indicate increased risk of in one Parkinson's disease study. It is so common that it makes more sense to think of the other 2 genotypes as rare risk reducers.
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CC linked to parkinson's disease We provide evidence for a novel, strong and reproducible association of the PITX3 promoter SNP rs3758549 : C>T (p=0.004) with PD. The C-allele appears to be a recessive risk allele with an estimated population frequency of 83%.
very slightly higher risk for myocardial infarction
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rs2291834 is a SNP in the MIA3 gene. Several studies, most notably perhaps by deCode scientists, have shown a (very slightly) elevated risk for myocardial infarctions to be associated with the rs2291834(C) allele.
Magnitude: 1
Most likely CYP2C19 normal, i.e. CYP2C19*1, and therefore of the 'rapid metabolizer' phenotype. This is based on none of the 11 CYP2C19 variants on the 23andMe v2 chip (out of 19 reported in SNPedia; most are quite rare) being observed.
Magnitude: 1
You appear to be a CYP3A5 expressor. This is normal. However it is still possible you carry variations which were not tested by your platform.
Magnitude: 1
CYP2C9 extensive metabolizers. This is normal.
higher risk for Achilles tendinopathy?
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A study of 1418 African-American women and men from the Genetic Epidemiology Network of Arteriopathy study found a significant sex-specific interaction effect between rs679620, a SNP in the metallopeptidase 3 MMP3 gene and body mass index (BMI) in African-American women but not men (p = 0.0009). rs679620 appears to have a protective effect on diastolic blood pressure in women with high BMI, but surprisingly, it had the opposite effect on women with low BMI, resulting in higher diastolic BP. A relatively small study (~100 patients) found associations between risk for Achilles tendinopathy and SNPs in the MMP3 gene. For rs679620, the (G;G) genotype had an odds ratio of 2.5 (CI: 1.2 - 4.90, p = 0.010). An interaction resulting in increased risk for Achilles tendinopathy was also reported betw...
higher risk for Achilles tendinopathy?
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rs591058 is a SNP in the matrix metallopeptidase 3 MMP3 gene on ch 11. A relatively small study (~100 patients) found associations between risk for Achilles tendinopathy and SNPs in the MMP3 gene. For rs591058, the (C;C) genotype had an odds ratio of 2.3 (CI: 1.1 to 4.50, p = 0.023).
Rh- (Rhesus negative)
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Rh (Rhesus) blood group, D antigen http://en.wikipedia.org/wiki/Rh_blood_group_system
higher bone mineral density in postmenopausal Spanish women
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rs7771980, also known as -1025T>C, is a SNP in the RUNX2 gene, which encodes an osteoblast-specific transcription factor involved in osteoblast differentiation and ossification. This SNP has been reported to be significantly associated with bone mineral density (BMD; and thus osteoporosis in several studies, but with different correlations. In a study of 821 Spanish postmenopausal women, rs7771980(C;T) women had higher mean adjusted femoral neck bone BMD values than those bearing the (T;T) genotype. In a study of 729 postmenopausal Korean women, the significant association found was that (C;C) women showed a significant association with reduced lumbar spine BMD and proximal femur sites compared with (C;T) or (T;T) subjects.
normal Eosinophilic esophagitis (EE) is an emerging worldwide disease, as documented by recent case series from Switzerland, Australia, Canada, Japan, England, and the US (14). Of concern, EE appears to be a growing health problem with an annual incidence of at least 1 in 10,000 children (5). The primary symptoms of EE (chest and abdominal pain, dysphagia, heartburn, vomiting, and food impaction) are also observed in patients with chronic esophagitis (CE) including gastroesophageal reflux disease (GERD) (68). However, in contrast to GERD, EE occurs more frequently in males (80%), appears to have a common familial form, has a high rate of associated atopic disease (70%), and is typically associated with a normal pH probe recording of the esophagus (5, 9, 10) In the 3? untranslated region, ...
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rs2302009 is a SNP located in the 3' untranslated region of the CCL26 gene. This gene (and this SNP) were discovered to be strongly associated with 117 patients with eosinophilic esophagitis, a form of esophagitis (or inflammation of the esophagus) that shares many symptoms with gastroesophageal reflux disease (GERD). rs2302009(G) is the risk allele. The rs2302009(G;G) homozygous genotype is the most predisposed to developing eosinophilic esophagitis (odds ratio 4.55, CI 1.71a12.39). The heterozgyote (rs2302009(G;T)) genotype's risk was indistinguishable statistically from the normal rs23020099(T;T) genotype. [OMIM:ESOPHAGITIS, EOSINOPHILIC]
Adverse reaction more likely to carbamazepine in epileptic patients
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rs2273697, also known as c1249G>A or p.V471I, is a nonsynonymous polymorphism in the ABCC2 gene. From an initial case-control study of 146 patients with epilepsy, followed by replication (p=0.001) in another 279 patients, the rs2273697(A) allele was associated with neurological adverse drug reactions from taking carbamazepine. Functional studies showed that this SNP selectively reduced carbamazepine transport across the cell membrane. [PharmGKB:Curated Risk or phenotype-associated allele: A. Phenotype: This SNP showed a strong association with the neurological adverse drug reaction caused (ADR) by carbamazepine (P=0.005). The study results indicate that the c.1249A variant is an independent risk factor of carbamazepine CNS ADR. Study size: 146 patients with epilepsy who had been prescr...
Reduced conversion of beta-carotene to retinol Associated with Rs7501331 and reduced BCMO1, lower ability to convert beta-carotene to retinyl esters and higher serum beta-carotene levels. See also Rs7501331
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rs12934922 (R267S) and rs7501331 (A379V) double mutant have a reduced catalytic activity of beta-carotene by 57%. Female volunteers carrying the T variant of rs7501331 (379V) had a 32% lower ability to convert Beta-carotene, and those carrying at least one T in both SNPs show a 69% lower ability to convert Beta-carotene into retinyl esters. rs7501331: the frequency of the wild-type C allele and variant T allele was 76 and 24%, respectively; 56% of the population was CC wild-type genotype, and 39% was heterozygote CT with the TT variant present in 5% of the population. rs12934922: the frequency of the wild-type A allele and variant T allele was 58 and 42%, respectively; 38% of the population was AA wild-type genotype, 40% was heterozygote AT, and 22% was TT homozygote
Reduced conversion of beta-carotene to retinol Reduced BCMO1 activity results in 32% lower ability to convert Beta-carotene to retinyl esters and higher serum beta-carotene levels. See also rs12934922.
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rs12934922 (R267S) and rs7501331 (A379V) double mutant have a reduced catalytic activity of beta-carotene by 57%. Female volunteers carrying the T variant of rs7501331 (379V) had a 32% lower ability to convert Beta-carotene, and those carrying at least one T in both SNPs show a 69% lower ability to convert Beta-carotene into retinyl esters. rs7501331: the frequency of the wild-type C allele and variant T allele was 76 and 24%, respectively; 56% of the population was CC wild-type genotype, and 39% was heterozygote CT with the TT variant present in 5% of the population. rs12934922: the frequency of the wild-type A allele and variant T allele was 58 and 42%, respectively; 38% of the population was AA wild-type genotype, 40% was heterozygote AT, and 22% was TT homozygote
common, but increased risk of testicular cancer
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Testicular germ cell tumor risk I('TGCT'; i.e. testicular cancer risk) was increased 3x per copy of the major (T) allele at rs3782179 and rs4474514 (OR = 3.08, CI: 2.294.13; OR = 3.07, CI = 2.294.13, respectively), based on a genome-wide scan of 277 primarily Caucasian TGCT cases and 919 controls. Men who have two copies of the common version of the c-KIT ligand KITLG gene have a 4.5-fold higher risk of testicular cancer than men who have two copies of the less common or minor version of the gene. https://www.23andme.com/you/community/thread/7837/ The original study was also only done in 277 people with the disease and 900 controls, so it's a very small study. [OMIM:?]
1.1x increased risk for schizophrenia
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rs6932590 is a SNP that is postulated to have a role in conferring increased susceptibility for schizophrenia. rs6932590 lies in the major histocompatibility complex (MHC) region on chromosome 6, a region that codes for several genes with significant roles in autoimmunity, such as human leukocyte antigens. Specifically, rs6932590 lies in an intergenic region between PRSS16 (a serine protease expressed in the thymus that plays a role in positive T cell selection) and POM121L2 (a membrane glycoprotein) . The T allele at rs6932590 purportedly confers an increased risk for schizophrenia, with reported odds ratios of 1.16 and 1.31 . === Evidence === One large-scale case-controlled genome-wide association study (GWAS) that examined differential genotypes in individuals with schizophrenia, found ...
normal risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The T allele was associated with a decreased risk of schizophrenia.
Conduct disorder (CD) is one of the most prevalent childhood psychiatric conditions, and is associated with a number of serious concomitant and future problems. CD symptomatology is known to have a considerable genetic component, with heritability estimates in the range of 50%. Four SNPs reached genome-wide significance with CD symptom count, based on P < 5x10^-8 Two of these SNPs (rs16891867 and rs1861046) were in the gene C1QTNF7 (C1q and tumor necrosis factor-related protein 7). These SNPs were in high LD (r^2=0.97). The other top two SNPs meeting genome-wide significance were intergenic and located on chromosomes 11 and 13. Alleles A/G were found to be associated with CD symptom count or CD case status. [http://www.downstate.edu/hbnl/documents/2010-Dick-Genome-wideassociationstudyof...
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[GWAS:Conduct disorder (case status)]
Duffy-positive This genotype is associated with European populations and south-western Native American populations.
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rs2814778 is within the DARC gene, which encodes the Duffy blood group antigen . This SNP shows an almost perfectly fixed difference in frequency between Europeans and those with African ancestry. [One exception appears to be a certain population of Czech gypsies, and certain non-Ashkenazi Jewish populations.]. Additionally the Namibian San samples of the CEPH-HGDP are, uncharacteristically for Africans, all AA homozygotes for this SNP. The rs2814778 (G) allele is associated with African populations, while rs2814778 (A) is associated with European populations and south-western Native American populations. rs2814778(G;G) protect against Plasmodium vivax malaria and predicts of white blood cell and neutrophil count spittoon discussion [PharmGKB:Curated African-American individuals with the ...
normal
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rs5030865 is a SNP in the CYP2D6 gene which defines two inactive variants, CYP2D6*8 and CYP2D6*14. This SNP has changed orientation in different reference genome builds and also has more than two allele changes possible, so references to it can be very confusing. The below are in genome build 37.1 plus orientation, while the 'also knowns' are in minus orientation: rs5030865(C) is the normal variant<br> rs5030865(A) is the CYP2D6*8 inactive variant, also known as 1758G>T or G169X<br> rs5030865(T) is the CYP2D6*14 inactive variant, also known as 1758G>A or G169R [OMIM:?]
Carrier for rs6994992(T;T) which one report has associated with both creativity and schizophrenia
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also known as SNP8NRG243177 Initial reports of a link to schizophrenia remain inconclusive. paper implicated in schizophrenia effects white matter density and integrity schizophrenia risk-associated The neuregulin 1 promoter polymorphism rs6994992 is '''not''' associated with neurocognition or chronic schizophrenia in a study of 738 patients T allele (in a per allele fashion) significantly associated with lateral ventricle volume in 95 first-episode schizophrenics points out that their result is that (T) was weakly associated with schizophrenia, however this is the opposite of the original association study where the C allele. [OMIM:NEUREGULIN 1; NRG1]
Magnitude: 0.8
No information regarding pain sensitivity. you were not recognized as gs234, gs233, or gs232.
Magnitude: 0
CYP1A2 normal metabolizer
Magnitude: 0
you have one or more copies of the CNV discussed at . see also gs218 tested via at least rs16889859(-;-)