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

2010
dbSNP: rs112638391
rs112638391
COL6A3
0.700 GeneticVariation UNIPROT

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 Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease. 17785674

2007
dbSNP: rs121912938
rs121912938
COL6A1
0.700 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
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 Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease. 17785674

2007
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: rs1255514828
rs1255514828
COL6A2
0.700 GeneticVariation UNIPROT

dbSNP: rs267606748
rs267606748
COL6A2
0.700 GeneticVariation UNIPROT

dbSNP: rs267606749
rs267606749
COL6A2
0.700 GeneticVariation UNIPROT

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: rs387906607
rs387906607
COL6A2
0.010 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: rs886043113
rs886043113
COL6A3
0.010 GeneticVariation BEFREE In family III, the patient had a nonsense mutation, R2342X, causing absence of collagen VI in muscle and fibroblasts, and a severe phenotype, as has been described in patients with UCMD. 11992252

2002
dbSNP: rs387906608
rs387906608
COL6A2
A 0.810 CausalMutation CLINVAR

dbSNP: rs267606746
rs267606746
COL6A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs113828929
rs113828929
COL6A2
A 0.700 CausalMutation CLINVAR