Most severe consequence
12
Missense variant
Alleles
G/A/C|Ancestral: G|MAF: < 0.01 (A)|Highest population MAF: 0.01
Location
Chromosome 15:48412619 (forward strand)|View in location tab
Co-located variant
HGMD-PUBLIC CM950453
Evidence status 
Clinical significance
HGVS names
This variant has 20 HGVS names - Show
Synonyms
This variant has 13 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 4 transcripts, 1 regulatory feature, has 2543 sample genotypes, is associated with 11 phenotypes and is mentioned in 7 citations.
Description from SNPedia
Description not available [More information from SNPedia]