Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912939
rs121912939
0.700 GeneticVariation UNIPROT Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease. 17785674

2007

dbSNP: rs121912939
rs121912939
0.700 GeneticVariation UNIPROT Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. 16130093

2005

dbSNP: rs121912939
rs121912939
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