Most severe consequence
12
Missense variant
Alleles
C/T|Ancestral: C|MAF: < 0.01 (T)|Highest population MAF: 0.02
Location
Chromosome 22:43124099 (forward strand)|View in location tab
Evidence status 
HGVS names
This variant has 5 HGVS names - Show
Synonyms
Uniprot VAR_048420
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 1 transcript and has 3086 sample genotypes.
