Original source

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

Alleles
T/C|Ancestral: C|Ambiguity code: Y|MAF: 0.35 (C)
Location

Chromosome 17:43091983 (forward strand)|View in location tab

Co-located variants

COSMIC COSM148277 ; HGMD-PUBLIC CM058359

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 23 HGVS names - Show

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 26 transcripts, has 4476 sample genotypes, is associated with 6 phenotypes and is mentioned in 18 citations.

Variant displays