Original source

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

T/G | Ancestral: T | Ambiguity code: K | MAF: 0.29 (G)

Chromosome 6:38682852 (forward strand) | View in location tab


with HGMD-PUBLIC CM042995

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 12 synonyms - Show

HGVS names

This variant has 4 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 2 transcripts, has 3156 sample genotypes, is associated with 2 phenotypes and is mentioned in 19 citations.

Variant displays