Original source

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

T/C | Ancestral: T | Ambiguity code: Y | MAF: 0.19 (C)

Chromosome 8:31167138 (forward strand) | View in location tab


with HGMD-PUBLIC CM971591

Most severe consequence
Missense variant
Evidence status


This variant has 7 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 5 transcripts, has 4713 sample genotypes, is associated with 1 phenotype and is mentioned in 15 citations.

Variant displays