Original source

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

G/A | Ancestral: A | Ambiguity code: R | MAF: 0.15 (A)

Chromosome 4:154570607 (forward strand) | View in location tab


with HGMD-PUBLIC CM080365

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 7 transcripts, has 4370 sample genotypes, is associated with 2 phenotypes and is mentioned in 12 citations.

Variant displays