Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.33 (A)

Chromosome 19:48703728 (forward strand) | View in location tab


with COSMIC COSM3757014 (G/A) ; HGMD-PUBLIC CM042988

Most severe consequence
Missense variant
Evidence status


This variant has 3 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 3 transcripts, has 3973 sample genotypes, is associated with 4 phenotypes and is mentioned in 14 citations.

Variant displays