Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434553
rs121434553
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT

dbSNP: rs117725825
rs117725825
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT

dbSNP: rs11553519
rs11553519
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT

dbSNP: rs114284669
rs114284669
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT

dbSNP: rs1064793840
rs1064793840
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT

dbSNP: rs121912940
rs121912940
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832

1996
dbSNP: rs121912939
rs121912939
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832

1996
dbSNP: rs121912936
rs121912936
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832

1996
dbSNP: rs121912935
rs121912935
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832

1996
dbSNP: rs794727418
rs794727418
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832

1996
dbSNP: rs201093313
rs201093313
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832

1996
dbSNP: rs35227432
rs35227432
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 9536084

1998
dbSNP: rs146092501
rs146092501
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 9536084

1998
dbSNP: rs138049094
rs138049094
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 9536084

1998
dbSNP: rs11903206
rs11903206
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 9536084

1998
dbSNP: rs35227432
rs35227432
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. 10399756

1999
dbSNP: rs146092501
rs146092501
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. 10399756

1999
dbSNP: rs138049094
rs138049094
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. 10399756

1999
dbSNP: rs11903206
rs11903206
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. 10399756

1999
dbSNP: rs121912940
rs121912940
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002
dbSNP: rs121912939
rs121912939
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002
dbSNP: rs121912936
rs121912936
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002
dbSNP: rs121912935
rs121912935
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002
dbSNP: rs794727418
rs794727418
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002
dbSNP: rs201093313
rs201093313
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002