Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.04 (A)

Chromosome 12:111803962 (forward strand) | View in location tab


with COSMIC COSM147611 (G/A) ; HGMD-PUBLIC CM870003

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 5 transcripts, has 3473 sample genotypes, is associated with 18 phenotypes and is mentioned in 57 citations.

Variant displays