From SNPedia
| ? | (A;A) (A;G) (G;G) | 28 |
|---|
 |
the association between
rs12203592 and
hair color was independent of
rs1540771, a SNP between the IRF4 and EXOC2 genes previously found to be associated with hair color.
| GWAS
|
| SNP
|
rs1540771
|
| PubMedID
|
[PMID 17952075]
|
| Condition
|
Freckles
|
| Gene
|
SEC5L1,IRF4
|
| Risk Allele
|
A
|
| pValue
|
4.00E-018
|
| OR
|
1.4
|
| 95% CI
|
1.26-1.57
|
| OMIM | 611724 |
| Desc | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8; SHEP8 |
| Variant | |
| Related | also |
| PharmGKB | PA162356693 |
| Name | |
| Annotation | GWAS Results: Genetic determinants of hair, eye and skin pigmentation in Europeans (Initial Sample Size: 2,986 individuals; Replication Sample Size: 3,932 individuals). This variant is associated with freckles. |
| Gene | - |
| Featue | |
| Evidence | PubMed ID:17952075; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Melanosis |
| Curation Level | Non-Curated |
