Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.13 (T)

Chromosome 1:209790735 (forward strand) | View in location tab


with HGMD-PUBLIC CM052248

Most severe consequence
Missense variant
Evidence status


This variant has 5 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature, has 3718 sample genotypes and is mentioned in 28 citations.

Variant displays