Most severe consequence
12
missense variant
Alleles
C/T|Ancestral: C|MAF: 0.30 (T)|Highest population MAF: 0.48
Location
Chromosome 16:48224287 (forward strand)|VCF:16 48224287 rs17822931 C T
Co-located variant
HGMD-PUBLIC CM062373
Evidence status 
Clinical significance
HGVS names
This variant has 16 HGVS names - Show
Synonyms
This variant has 9 synonyms - Show
Genotyping chips
This variant has assays on 9 chips - Show
Original source
Variants (including SNPs and indels) imported from dbSNP (release 151)|View in dbSNP
About this variant
This variant overlaps 5 transcripts, has 3718 sample genotypes, is associated with 3 phenotypes and is mentioned in 18 citations.