Most severe consequence
12
Missense variant
Alleles
G/C|Ancestral: G|MAF: < 0.01 (C)|Highest population MAF: 0.02
Location
Chromosome 7:130401907 (forward strand)|View in location tab
Evidence status 
Clinical significance
HGVS names
This variant has 17 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 12 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.
