Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906608
rs387906608
COL6A2
0.810 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs387906608
rs387906608
COL6A2
0.810 GeneticVariation BEFREE Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients. 20106987

2010
dbSNP: rs387906608
rs387906608
COL6A2
0.810 GeneticVariation UNIPROT Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448

2005
dbSNP: rs387906608
rs387906608
COL6A2
0.810 GeneticVariation UNIPROT Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506

2005
dbSNP: rs387906608
rs387906608
COL6A2
A 0.810 CausalMutation CLINVAR

dbSNP: rs267606746
rs267606746
COL6A1
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs267606746
rs267606746
COL6A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs1569517943
rs1569517943
COL6A1
T 0.700 GeneticVariation 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: rs121912938
rs121912938
COL6A1
0.700 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs398124126
rs398124126
COL6A3
T 0.700 CausalMutation CLINVAR Natural history of Ullrich congenital muscular dystrophy. 19564581

2009
dbSNP: rs886043919
rs886043919
COL6A3
A 0.700 CausalMutation CLINVAR Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 18366090

2008
dbSNP: rs121912938
rs121912938
COL6A1
0.700 GeneticVariation UNIPROT Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease. 17785674

2007
dbSNP: rs121912939
rs121912939
COL6A1
0.700 GeneticVariation UNIPROT Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease. 17785674

2007
dbSNP: rs121912938
rs121912938
COL6A1
0.700 GeneticVariation UNIPROT Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. 16130093

2005
dbSNP: rs121912938
rs121912938
COL6A1
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: rs121912939
rs121912939
COL6A1
0.700 GeneticVariation UNIPROT Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. 16130093

2005
dbSNP: rs121912939
rs121912939
COL6A1
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: rs398124126
rs398124126
COL6A3
T 0.700 CausalMutation CLINVAR Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506

2005
dbSNP: rs75120695
rs75120695
COL6A2
0.700 GeneticVariation UNIPROT Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506

2005
dbSNP: rs75120695
rs75120695
COL6A2
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: rs778940391
rs778940391
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: rs80272723
rs80272723
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: rs112638391
rs112638391
COL6A3
0.700 GeneticVariation UNIPROT

dbSNP: rs113828929
rs113828929
COL6A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs121434554
rs121434554
COL6A3
A 0.700 CausalMutation CLINVAR