Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.01 (A)

Chromosome 18:31598655 (forward strand) | View in location tab


with HGMD-PUBLIC CM900219, CD972505

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 5 transcripts, has 2504 sample genotypes, is associated with 5 phenotypes and is mentioned in 6 citations.

Variant displays