Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912936
rs121912936
COL6A1
G 0.800 CausalMutation CLINVAR Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. 28877744

2017
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation CLINVAR Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. 28182637

2017
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation 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: rs121912936
rs121912936
COL6A1
G 0.800 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs121434555
rs121434555
COL6A3
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs121912935
rs121912935
COL6A1
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs121912936
rs121912936
COL6A1
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs121912939
rs121912939
COL6A1
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs121912940
rs121912940
COL6A2
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs267606747
rs267606747
COL6A2
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs267606750
rs267606750
COL6A2
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs267606750
rs267606750
COL6A2
A 0.800 CausalMutation CLINVAR Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. 20576434

2010
dbSNP: rs794727188
rs794727188
COL6A3
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation CLINVAR Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. 18825676

2008
dbSNP: rs121912940
rs121912940
COL6A2
0.800 GeneticVariation UNIPROT Molecular consequences of dominant Bethlem myopathy collagen VI mutations. 17886299

2007
dbSNP: rs121912935
rs121912935
COL6A1
0.800 GeneticVariation UNIPROT Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448

2005
dbSNP: rs121912935
rs121912935
COL6A1
0.800 GeneticVariation UNIPROT Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. 15955946

2005
dbSNP: rs121912936
rs121912936
COL6A1
0.800 GeneticVariation UNIPROT Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448

2005
dbSNP: rs121912936
rs121912936
COL6A1
0.800 GeneticVariation UNIPROT Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. 15955946

2005
dbSNP: rs121912939
rs121912939
COL6A1
0.800 GeneticVariation UNIPROT Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. 15955946

2005
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation CLINVAR 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
0.800 GeneticVariation UNIPROT Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448

2005
dbSNP: rs121912940
rs121912940
COL6A2
0.800 GeneticVariation UNIPROT Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448

2005