Original source

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

G/C | Ancestral: C | Ambiguity code: S | MAF: 0.41 (C)

Chromosome 22:50625611 (forward strand) | View in location tab


with HGMD-PUBLIC CM910052

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 8 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 8 transcripts, has 3531 sample genotypes, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays