Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35227432
rs35227432
COL6A3
0.700 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs35227432
rs35227432
COL6A3
0.700 GeneticVariation UNIPROT Molecular consequences of dominant Bethlem myopathy collagen VI mutations. 17886299

2007
dbSNP: rs35227432
rs35227432
COL6A3
0.700 GeneticVariation UNIPROT Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448

2005
dbSNP: rs35227432
rs35227432
COL6A3
0.700 GeneticVariation UNIPROT A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. 10399756

1999
dbSNP: rs35227432
rs35227432
COL6A3
0.700 GeneticVariation UNIPROT Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 9536084

1998