Original source

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

G/A | Ancestral: A | Ambiguity code: R | MAF: 0.13 (A)

Chromosome 7:30969071 (forward strand) | View in location tab


with HGMD-PUBLIC CM005494

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 10 transcripts, has 3361 sample genotypes, is associated with 2 phenotypes and is mentioned in 9 citations.

Variant displays