Original source

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

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

Chromosome 5:132340627 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041074

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 13 chips - Show

About this variant

This variant overlaps 3 transcripts, has 3819 sample genotypes, is associated with 3 phenotypes and is mentioned in 34 citations.

Variant displays