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: 0.03 (A)
Location

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

Co-located

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

Most severe consequence
Evidence status

Clinical significance

Synonyms

Uniprot VAR_058213

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

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni1-Quad, Illumina_HumanOmni2.5

Variation displays