Original source

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

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

Chromosome 21:46112542 (forward strand) | View in location tab


with PhenCode COL6A2:c.679G>A (G/A)

Most severe consequence
Missense variant
Evidence status


This variant has 2 synonyms - Show

HGVS names

This variant has 26 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 16 transcripts, has 2544 sample genotypes and is associated with 1 phenotype.

Variant displays