Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606746
rs267606746
COL6A1
A 0.800 CausalMutation CLINVAR

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

2010
dbSNP: rs121912937
rs121912937
COL6A1
G 0.700 CausalMutation CLINVAR

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: rs137964147
rs137964147
COL6A1
T 0.700 GeneticVariation 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: rs1569518138
rs1569518138
COL6A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1569518677
rs1569518677
COL6A1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs797044457
rs797044457
COL6A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs797044458
rs797044458
COL6A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs387906608
rs387906608
COL6A2
A 0.810 CausalMutation CLINVAR

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: rs113828929
rs113828929
COL6A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1255514828
rs1255514828
COL6A2
0.700 GeneticVariation UNIPROT

dbSNP: rs150168522
rs150168522
COL6A2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1568931397
rs1568931397
COL6A2
G 0.700 CausalMutation CLINVAR