Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.02 (A)

Chromosome 1:12193005 (forward strand) | View in location tab


with COSMIC COSM3747515 (G/A)

Most severe consequence
Missense variant
Evidence status


This variant has 6 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 5 transcripts, has 3830 sample genotypes and is mentioned in 5 citations.

Variant displays