Most severe consequence
12
Missense variant
Alleles
T/C|Ancestral: T|MAF: 0.05 (C)|Highest population MAF: 0.12
Location
Chromosome 22:17743998 (forward strand)|View in location tab
Co-located variants
COSMIC COSM3681365, COSM3681364
Evidence status 
HGVS names
This variant has 31 HGVS names - Show
Synonyms
Uniprot VAR_018845
Genotyping chips
This variant has assays on 6 chips - Show
Original source
Variants (including SNPs and indels) imported from dbSNP (release 149)|View in dbSNP
About this variant
This variant overlaps 15 transcripts, has 3728 sample genotypes and is mentioned in 11 citations.
Description from SNPedia
Previous studies had suggested that the minor allele of this SNP might influence breast cancer. However, a 2009 European study of 30,000 breast cancer cases, compared to 30,000 controls, found no association, or as they put it, "persuasive evidence against an overall association between invasive breast cancer risk and (this SNP)".[PMID:19423537]
