Original source

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

A/G | Ancestral: G | Ambiguity code: R | MAF: 0.29 (A)

Chromosome 1:230710048 (forward strand) | View in location tab


with COSMIC COSM425562 (A/G) ; HGMD-PUBLIC CM920010

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 7 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 2 transcripts, has 3817 sample genotypes, is associated with 4 phenotypes and is mentioned in 41 citations.

Variant displays