Original source

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

Alleles
A/G|Ancestral: G|Ambiguity code: R|MAF: 0.21 (A)
Location

Chromosome 22:23285182 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM057927

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 4077 sample genotypes and is mentioned in 3 citations.

Variant displays