Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.44 (A)
Location

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

Co-located

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

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

This variation has assays on 10 chips - click the plus to show

About this variant

This variant overlaps 6 transcripts, has 2482 individual genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variation displays