Original source

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

G/A/C | Ancestral: G | Ambiguity code: V | MAF: 0.03 (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
Missense variant
Evidence status


This variant has 2 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature, has 2506 sample genotypes and is associated with 2 phenotypes.

Variant displays