Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.09 (A)

Chromosome 16:31265490 (forward strand) | View in location tab


with HGMD-PUBLIC CM080418

Most severe consequence
Missense variant
Evidence status


This variant has 2 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 2 transcripts, 2 regulatory features, has 2541 sample genotypes and is mentioned in 42 citations.

Variant displays