Original source

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

Alleles
C/T|Ancestral: T|Ambiguity code: Y|MAF: 0.47 (C)
Location

Chromosome 13:51949672 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 20 HGVS names - Show

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 13 transcripts, has 4271 sample genotypes, is associated with 2 phenotypes and is mentioned in 4 citations.

Variant displays