Original source

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

C/A | Ancestral: C | Ambiguity code: M | MAF: 0.02 (A)

Chromosome 22:23285051 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_041885

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 2505 sample genotypes and is mentioned in 1 citation.

Variant displays