Original source

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

Alleles
C/G|Ancestral: C|Ambiguity code: S|MAF: 0.09 (G)
Location

Chromosome 8:19962213 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM900164

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 1 transcript, 1 regulatory feature, has 3203 sample genotypes, is associated with 8 phenotypes and is mentioned in 52 citations.

Variant displays