Most severe consequence
12
missense variant
Alleles
A/G/T|Ancestral: G|MAF: 0.44 (A)|Highest population MAF: 0.49
Location
Chromosome 15:48134287 (forward strand)|VCF:15 48134287 rs1426654 A G,T
Co-located variant
HGMD-PUBLIC CM054862
Evidence status 
Clinical significance
HGVS names
This variant has 18 HGVS names - Show
Synonyms
This variant has 8 synonyms - Show
Genotyping chips
This variant has assays on 8 chips - Show
Original source
Variants (including SNPs and indels) imported from dbSNP (release 151)|View in dbSNP
About this variant
This variant overlaps 3 transcripts, has 3619 sample genotypes, is associated with 6 phenotypes and is mentioned in 48 citations.
Description from SNPedia
This SNP influences skin pigmentation. The allele, A111T, rs1426654(A), indicates light-skinned West Eurasian ancestry. [PMID:16847698, PMID:16357253]... Show