Original source

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

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

Chromosome 21:46132535 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_048803

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 14 transcripts, has 2545 sample genotypes and is associated with 1 phenotype.

Variant displays