Most severe consequence
12
Missense variant
Alleles
C/T|Ancestral: C|MAF: 0.04 (T)|Highest population MAF: 0.18
Location
Chromosome 18:63318540 (forward strand)|View in location tab
Co-located variant
HGMD-PUBLIC CM980213
Evidence status 
HGVS names
This variant has 11 HGVS names - Show
Synonyms
This variant has 2 synonyms - Show
Genotyping chips
This variant has assays on: Illumina_ExomeChip
Original source
Variants (including SNPs and indels) imported from dbSNP (release 149)|View in dbSNP
About this variant
This variant overlaps 3 transcripts, 1 regulatory feature, has 2849 sample genotypes and is mentioned in 4 citations.
