From SNPedia
| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
brown eye color, 80% of the time
|
| (A;G)
|
|
brown eye color
|
| (G;G)
|
2
|
blue eye color, 99% of the time
|
| ? | (A;A) (A;G) (G;G) | 28 |
|---|
 |
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.[
PMID 18172690,
PMID 18252222]
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 (4.85–10.06). 10.1371/journal.pgen.1000993rs12913832 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 racial groups.[PMID 18172690]
[PMID 18650849] rs12913832-T (brown eye) homozygotes compared to rs12913832-C (blue eye). correlations with skin, eye, and hair color variation.
The "h-1" haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows [PMID 18172690]:
rs4778241(C)
rs1129038(A)
rs12593929(A)
rs12913832(G)
rs7183877(C)
rs3935591(G)
rs7170852(A)
rs2238289(T)
rs3940272(C)
rs8028689(T)
rs2240203(A)
rs11631797(G)
rs916977(G)
blog coverage
[PMID 19278018] Brief communication: Blue eyes in lemurs and humans: Same phenotype, different genetic mechanism
[PMID 19208107] Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
| OMIM | 227220 |
| Desc | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 |
| Variant | |
| Related | also |
| OMIM | 605837 |
| Desc | HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2 |
| Variant | |
| Related | also |
| PharmGKB | PA162356369 |
| Name | |
| Annotation | GWAS Results: A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation (Initial Sample Size: 2,287 women; Replication Sample Size: up to 8,465 individuals; Risk/trait Allele: rs12913832-A). This variant is associated with Black vs. red hair color. |
| Gene | HERC2 |
| Featue | |
| Evidence | PubMed ID:18483556; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | |
| Curation Level | Non-Curated |
| GWAS snp
|
| PMID
|
[PMID 20463881]
|
| Trait
|
Eye color traits
|
| Title
|
Digital quantification of human eye color highlights genetic association of three new loci
|
| Risk Allele
|
|
| P-val
|
0
|
| Odds Ratio
|
None None
|
| GWAS snp
|
| PMID
|
[PMID 20585627]
|
| Trait
|
Eye color
|
| Title
|
Web-based, participant-driven studies yield novel genetic associations for common traits
|
| Risk Allele
|
A
|
| P-val
|
3E-52
|
| Odds Ratio
|
8.43 [NR]
|
| PharmGKB | PA162356368 |
| Name | |
| Annotation | GWAS Results: A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation (Initial Sample Size: 2,287 women; Replication Sample Size: up to 8,465 individuals; Risk/trait Allele: rs12913832-A). This variant is associated with Black vs. blond hair color. |
| Gene | HERC2 |
| Featue | |
| Evidence | PubMed ID:18483556; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | |
| Curation Level | Non-Curated |
[PMID 20457063] Human eye colour and HERC2, OCA2 and MATP
