Original source

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

Alleles
T/C|Ambiguity code: Y|MAF: 0.15 (C)
Location

Chromosome 19:44908684 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM900020

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 9 transcripts, has 2775 sample genotypes, is associated with 11 phenotypes and is mentioned in 407 citations.

Variant displays