Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D|MAF: 0.39 (A)
Location

Chromosome 21:46125854 (forward strand)|View in location tab

Co-located variant

PhenCode COL6A2:c.2039G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 28 HGVS names - Show

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 12 transcripts, has 3891 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays