This variant maps to 2 locations

Select a location:
Alleles
A/G|Ancestral: A|MAF: 0.18 (G)
Location

This variant maps to 2 genomic locations; None selected

Evidence status

Clinical significance

HGVS name

NM_004667.5:c.13272+874T>C

Synonyms

This variant has 3 synonyms - Show

Genotyping chips

This variant has assays on 13 chips - Show

Original source

Variants (including SNPs and indels) imported from dbSNP (release 149)|View in dbSNP

About this variant

This variant has 3631 sample genotypes, is associated with 30 phenotypes and is mentioned in 113 citations.

Description from SNPedia

rs12913832 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]... Show

Variant displays