rs4074658

▶

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

▶

Research that mentions this SNP (1)

▶
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.
AssociationN=200Eiberg H et al.(2008)· Human genetics

This study identified a founder mutation in HERC2 intron 86 (rs12913832) that is perfectly associated with blue eye color. Through linkage analysis of a large Danish family and association studies in 155 blue-eyed and 45 brown-eyed individuals, the researchers mapped the blue eye color locus to a 166 Kbp region and demonstrated that rs12913832 (G allele) and rs1129038 (A allele) are perfectly associated with blue eyes (P = 6.12e-46). Functional studies showed this regulatory element significantly reduces OCA2 promoter activity through differential binding of transcription factors.

Traits studied:Blue eye colorBrown eye colorEye color variationHair color
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…