Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.15 (A)

Chromosome 1:169727805 (forward strand) | View in location tab


with COSMIC COSM146677 (G/A) ; HGMD-PUBLIC CM025889

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 7 transcripts, has 4823 sample genotypes, is associated with 2 phenotypes and is mentioned in 3 citations.

Variant displays