Original source

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

T/A | Ancestral: T | Ambiguity code: W | MAF: 0.29 (A)

Chromosome 12:40320099 (forward strand) | View in location tab


with HGMD-PUBLIC CM104616

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 4 transcripts, has 3119 sample genotypes, is associated with 1 phenotype and is mentioned in 12 citations.

Variant displays