Most severe consequence
13
missense variant
Alleles
G/A/C|Ancestral: G|Highest population MAF: 0.28
Change tolerance
CADD: A:4.110, C:7.602|GERP: -3.77
Location
Chromosome 21:40353703 (forward strand)|VCF:21 40353703 rs2297270 G A,C
Co-located variant
COSMIC COSV68020759
Evidence status 
HGVS names
This variant has 8 HGVS names - Show
Synonyms
This variant has 3 synonyms - Show
Genotyping chips
This variant has assays on 5 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 3009 sample genotypes and is mentioned in 1 citation.
