| Geno
|
Mag
|
Summary
|
| (A;A)
|
1.5
|
blond hair & blue eyes is 4x more likely
|
| (G;G)
|
1.5
|
darker skin, eye and hair color is more likely
|
rs1667394 increases susceptibility to Blond rather than brown hair 4.94 times for carriers of the A allele [PMID 17952075]
rs1667394 increases susceptibility to Blue rather than brown eyes 29.43 times for carriers of the A allele [PMID 17952075]
rs1667394 increases susceptibility to Blue rather than green eyes 6.74 times for carriers of the A allele [PMID 17952075]
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.1000993
| OMIM | 605837 |
| Desc | HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2 |
| Variant | |
| Related | also |
[PMID 18252221
] Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
[PMID 18252222] A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
[PMID 18483556] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
[PMID 20585627] Web-based, participant-driven studies yield novel genetic associations for common traits.
[PMID 23100201] A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model
| GWAS snp
|
| PMID
|
[PMID 23118974]
|
| Trait
|
Eye color
|
| Title
|
Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.
|
| Risk Allele
|
C
|
| P-val
|
2E-20
|
| Odds Ratio
|
.35 [0.28-0.42] unit increase
|
] Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
