Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515332
rs397515332
COL6A3
G 0.700 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704

2017
dbSNP: rs397515332
rs397515332
COL6A3
G 0.700 CausalMutation CLINVAR Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. 24038877

2013
dbSNP: rs397515332
rs397515332
COL6A3
G 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs397515332
rs397515332
COL6A3
G 0.700 CausalMutation CLINVAR Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. 18825676

2008
dbSNP: rs397515332
rs397515332
COL6A3
G 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994