Original source

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

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

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


with COSMIC COSM3758961 (G/A), COSM3758963 (G/A), COSM3758962 (G/A) ; PhenCode COL6A2:c.2039G>A (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


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