Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.03 (A)

Chromosome 21:45984388 (forward strand) | View in location tab


with COSMIC COSM3758955 (G/A) ; HGMD-PUBLIC CM050211 ; PhenCode COL6A1:c.347G>A (G/A)

Most severe consequence
Evidence status

Clinical significance


Uniprot VAR_058213

This variation has 8 HGVS names - click the plus to show

This variation has assays on 4 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 1094 individual genotypes and is associated with 2 phenotypes.

Variation displays