Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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 2506 individual genotypes and is associated with 1 phenotype.

Variation displays