Original source

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

T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.15 (T)

Chromosome 12:111446804 (forward strand) | View in location tab


with HGMD-PUBLIC CM084630

Most severe consequence
Missense variant
Evidence status


This variant has 4 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on 13 chips - Show

About this variant

This variant overlaps 5 transcripts, has 3562 sample genotypes, is associated with 17 phenotypes and is mentioned in 122 citations.

Variant displays