Original source

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

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

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

Most severe consequence
Missense variant
Evidence status

Clinical significance


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