Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y|MAF: 0.01 (C)
Location

Chromosome 5:147828115 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM001343

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 3 transcripts, has 3208 sample genotypes, is associated with 7 phenotypes and is mentioned in 6 citations.

Variant displays