Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.08 (T)
Location

Chromosome 19:44908822 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM860003

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 9 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 6 transcripts, has 3334 sample genotypes, is associated with 9 phenotypes and is mentioned in 177 citations.

Variant displays