|| blond hair & blue eyes is 4x more likely
|| darker skin, eye and hair color is more likely
|?|| (A;A) (A;G) (G;G) ||28|
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
|Desc||HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2|
] 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.
|| Insufficiently evaluated pathogenic
[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
|| [PMID 23118974]
|| Eye color
|| Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.
| Risk Allele
| Odds Ratio
|| .35 [0.28-0.42] unit increase