Original source

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

A/G | Ancestral: A | Ambiguity code: R | MAF: 0.05 (G)

Chromosome 10:71730514 (forward strand) | View in location tab


with HGMD-PUBLIC CM021540

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 2507 sample genotypes, is associated with 4 phenotypes and is mentioned in 4 citations.

Variant displays