Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 22:50625446 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CD085805, CM012065

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 13 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 8 transcripts and is associated with 3 phenotypes.

Variant displays