Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.37 (A)
Location

Chromosome 22:19963748 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960420

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 16 synonyms - Show

HGVS names

This variant has 20 HGVS names - Show

Genotyping chips

This variant has assays on 14 chips - Show

About this variant

This variant overlaps 12 transcripts, has 4403 sample genotypes, is associated with 3 phenotypes and is mentioned in 495 citations.

Variant displays