From SNPedia
| Geno
|
Mag
|
Summary
|
| (A;A)
|
|
blue/gray eyes more likely
|
| (A;G)
|
|
blue/gray eyes less likely
|
| (G;G)
|
|
blue/gray eyes less likely
|
| ? | (A;A) (A;G) (G;G) | 28 |
|---|
 |
is located in intron 1 of the
OCA2 gene. The (A) allele (in dbSNP orientation) is associated with blue or green
eye color in Caucasians. [
PMID 17236130].
This SNP is 1 of 3 SNPs defining a haplotype that has been studied for association with eye color. The full details on the correspondence between the haplotype and eye color can be found on the OCA2 page.
| OMIM | 227220 |
| Desc | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 |
| Variant | |
| Related | also |
| PharmGKB | PA162167954 |
| Name | |
| Annotation | A haplotype containing rs11855019, rs6497268 and rs7495174 was highly associated with eye color, hair color and skin pigmentation in a mostly Northern European twin study. |
| Gene | OCA2 |
| Featue | |
| Evidence | PubMed ID:17236130 |
| Drugs | |
| Diseases | Melanoma, Skin Neoplasms |
| Curation Level | Curated |
