This variant maps to 2 locations

Select a location:
Alleles
T/C|Ancestral: T|MAF: 0.39 (C)
Location

This variant maps to 2 genomic locations; None selected

Evidence status

HGVS name

NM_004667.5:c.1598+247A>G

Synonyms

Archive dbSNP rs60705971, rs386620749

Genotyping chips

This variant has assays on 9 chips - Show

Original source

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

About this variant

This variant has 4308 sample genotypes, is associated with 4 phenotypes and is mentioned in 20 citations.

Description from SNPedia

rs916977 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, 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 ethnic groups.[PMID:18172690, PMID:18252221]... Show

Variant displays