Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.25 (A)

Chromosome 1:11796321 (forward strand) | View in location tab


with COSMIC COSM146404 (G/A), COSM3927609 (G/A) ; HGMD-PUBLIC CM950819

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 6 transcripts, has 4454 sample genotypes, is associated with 6 phenotypes and is mentioned in 446 citations.

Variant displays