Public Profile -- hu9F7183
Public profile url: https://my.pgp-hms.org/profile/hu9F7183
Personal Health Records
None added.Samples
None available.Uploaded data
| Date | Data type | Source | Name | Download | Report | |
|---|---|---|---|---|---|---|
| 2016-05-26 | Veritas Genetics | Participant | BWPZS7W - BAM |
Download
(43 GB) |
||
| 2016-05-26 | Veritas Genetics | Participant | BWPZS7W - VCF |
Download
(408 MB) |
View ClinVar report View GET-Evidence report |
Geographic Information
| State: | Pennsylvania |
| Zip code: | 15228 |
Family Members Enrolled
None added.Surveys
| PGP Participant Survey | Responses submitted 1/18/2012 10:32:18. Show responses |
|---|---|
| Timestamp | 1/18/2012 10:32:18 |
| Year of birth | 50-59 years |
| Which statement best describes you? | I am comfortable making my genome sequence data publicly available without prior review. |
| Severe disease or rare genetic trait | Yes |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. | I have fairly mild eosinophilic fasciitis, and mild asthma/allergies. My sister has MS, my brother had some severe ulcerative colitis leading to large bowel removal, and my mother died (at 84) with some idiopathic pulmonary infiltrative disease. I would suspect some inherited tendency to autoimmune/inflammatory processes that may present in different organ systems and which may not be recognized in a single disease entity. |
| Disease/trait: Onset | 40-49 years of age |
| Disease/trait: Rarity | Very rare/uncommon |
| Disease/trait: Severity | Low severity disease |
| Disease/trait: Relative enrollment | Maybe |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | No |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | I do not have all data in hand immediately. But I have access to data from multiple CBC/diff studies (documenting eosinophil counts most relevantly), serum albumin, assays for ANA, etc., widely sued for autoimmune disease assessments. |
| Sex/Gender | Male |
| Race/ethnicity | White |
| Maternal grandmother: Country of origin | United States |
| Paternal grandmother: Country of origin | Ireland |
| Paternal grandfather: Country of origin | Ireland |
| Maternal grandfather: Country of origin | United States |
| Enrollment of relatives | No |
| Enrollment of older individuals | No |
| Enrollment of parents | No |
| Have you uploaded genetic data to your PGP participant profile? | No, I have no genetic data. |
| Have you used the PGP web interface to record a designated proxy? | Yes |
| Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? | No, but I plan to |
| Blood sample | Yes |
| Saliva sample | Yes |
| Microbiome samples | Yes |
| Tissue samples from surgery | Yes |
| Tissue samples from autopsy | Yes |
| PGP Trait & Disease Survey 2012: Cancers | Responses submitted 8/14/2015 15:58:44. Show responses |
| Timestamp | 8/14/2015 15:58:44 |
| Other condition not listed here? | actinic keratoses |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 8/14/2015 15:59:40. Show responses |
| Timestamp | 8/14/2015 15:59:40 |
| Other condition not listed here? | eosinophilic fasciitis |
| PGP Trait & Disease Survey 2012: Blood | Responses submitted 8/14/2015 16:00:42. Show responses |
| Timestamp | 8/14/2015 16:00:42 |
| Other condition not listed here? | eosinophilic fasciitis |
| PGP Trait & Disease Survey 2012: Nervous System | Responses submitted 8/14/2015 16:01:04. Show responses |
| Timestamp | 8/14/2015 16:01:04 |
| PGP Trait & Disease Survey 2012: Respiratory System | Responses submitted 8/14/2015 16:01:33. Show responses |
| Timestamp | 8/14/2015 16:01:33 |
| Have you ever been diagnosed with any of the following conditions? | Allergic rhinitis, Asthma |
| PGP Trait & Disease Survey 2012: Vision and hearing | Responses submitted 8/14/2015 16:02:01. Show responses |
| Timestamp | 8/14/2015 16:02:01 |
| Have you ever been diagnosed with one of the following conditions? | Color blindness, Tinnitus |
| PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue | Responses submitted 8/14/2015 16:02:40. Show responses |
| Timestamp | 8/14/2015 16:02:40 |
| Have you ever been diagnosed with any of the following conditions? | Osteoarthritis, Dupuytren's contracture, Osteoporosis |
| Other condition not listed here? | eosinophilic fasciitis |
| PGP Basic Phenotypes Survey 2015 | Responses submitted 8/14/2015 16:05:50. Show responses |
| Timestamp | 8/14/2015 16:05:50 |
| 1.1 — Blood Type | O + |
| 1.2 — Height | 5'8" |
| 1.3 — Weight | 155 |
| 1.4 — Comments | eyes blue hair red(now gray!) |
| 2.1 — Left Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) | 2 |
| 2.2 — Right Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) | 2 |
| 2.3 — Left Eye Color - Text Description | blue |
| 2.4 — Right Eye Color - Text Description | same |
| 3.1 — What is your natural hair color currently, when without artificial color or dye? | gray |
| 3.2 — Hair Color - Text Description | red/brown before greying |
| 1.4 — Handedness | Right |
Absolute Pitch Survey [see all responses]
Can tell if notes are in tune: Yes
Can sing a melody on key: Yes
Can recognize musical intervals: Yes
Do you have absolute pitch? No
Enrollment History
| Participant ID: | hu9F7183 |
| Account created: | 2012-01-10 17:38:36 UTC |
| Eligibility screening: | 2012-01-10 17:50:52 UTC (passed v2) |
| Exam: | 2012-01-10 18:12:01 UTC (passed v2) |
| Consent: | 2023-11-02 22:37:02 UTC (passed v20210712) |
| Enrolled: | 2012-01-17 02:50:33 UTC |
