Original source

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

A/G/T | Ancestral: A | Ambiguity code: D | MAF: 0.43 (G)

Chromosome 2:203867991 (forward strand) | View in location tab


with COSMIC COSM3736237 (A/G) ; HGMD-PUBLIC CM970403

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 10 transcripts, has 4121 sample genotypes, is associated with 6 phenotypes and is mentioned in 181 citations.

Variant displays