Original source

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

C/T | Ancestral: T | Ambiguity code: Y | MAF: 0.41 (C)

Chromosome 2:48962782 (forward strand) | View in location tab


with COSMIC COSM3927763 (C/T) ; HGMD-PUBLIC CM052876

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 8 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on 14 chips - Show

About this variant

This variant overlaps 4 transcripts, has 4326 sample genotypes, is associated with 3 phenotypes and is mentioned in 32 citations.

Variant displays