Most severe consequence
12
Missense variant
Alleles
A/C|Ancestral: A|MAF: 0.01 (C)|Highest population MAF: 0.04
Location
Chromosome 7:130400746 (forward strand)|View in location tab
Co-located variant
HGMD-PUBLIC CM112160
Evidence status 
Clinical significance
HGVS names
This variant has 17 HGVS names - Show
Synonyms
This variant has 3 synonyms - Show
Genotyping chips
This variant has assays on: Illumina_HumanOmni5, Illumina_ExomeChip
Original source
Variants (including SNPs and indels) imported from dbSNP (release 149)|View in dbSNP
About this variant
This variant overlaps 12 transcripts, 1 regulatory feature, has 2505 sample genotypes and is associated with 1 phenotype.
