Original source

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

Alleles
G/C|Ancestral: C|Ambiguity code: S|MAF: 0.41 (C)
Location

Chromosome 22:50625611 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM910052

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 8 transcripts, has 3531 sample genotypes, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays