Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.20 (T)

Chromosome 11:27658369 (forward strand) | View in location tab


with HGMD-PUBLIC CM020369

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 8 synonyms - Show

HGVS names

This variant has 44 HGVS names - Show

Genotyping chips

This variant has assays on 15 chips - Show

About this variant

This variant overlaps 27 transcripts, has 4259 sample genotypes, is associated with 12 phenotypes and is mentioned in 359 citations.

Variant displays