Original source

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

G/A/T | Ancestral: G | Ambiguity code: D | MAF: 0.10 (A)

Chromosome 12:40309109 (forward strand) | View in location tab


with HGMD-PUBLIC CM104617

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 10 transcripts, has 4022 sample genotypes, is associated with 1 phenotype and is mentioned in 10 citations.

Variant displays