Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

A/G | Ancestral: A | Ambiguity code: R | 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 - click the plus to show

This variant has 8 HGVS names - click the plus to show

This variant has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 4121 sample genotypes, is associated with 6 phenotypes and is mentioned in 178 citations.

Variant displays