Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727418
rs794727418
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Molecular consequences of dominant Bethlem myopathy collagen VI mutations. 17886299

2007
dbSNP: rs794727418
rs794727418
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		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: 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: 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