Most severe consequence
13
missense variant
Alleles
A/G|Ancestral: G|MAF: 0.29 (A)|Highest population MAF: 0.50
Change tolerance
CADD: G:0.126
Location
Chromosome 1:230845794 (forward strand)|VCF:1 230845794 rs699 A G
Co-located variants
dbSNP rs1553314015 (A/-) ; HGMD-PUBLIC CM920010 ; COSMIC COSV64184214
Evidence status 
Clinical significance
HGVS names
This variant has 11 HGVS names - Show
Synonyms
This variant has 10 synonyms - Show
Genotyping chips
This variant has assays on 11 chips - Show
Original source
Variants (including SNPs and indels) imported from dbSNP (release 156)|View in dbSNP
About this variant
This variant has predicted consequences for 1 transcript, has 2504 sample genotypes, is associated with 12 phenotypes and is mentioned in 336 citations.
