rs1555873356, COL6A2

N. diseases: 1
Disease: BETHLEM MYOPATHY 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
0.700 GeneticVariation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770 2010
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
0.700 GeneticVariation CLINVAR Autosomal recessive inheritance of classic Bethlem myopathy. 19884007 2009
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
0.700 GeneticVariation CLINVAR Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 18366090 2008
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
0.700 GeneticVariation CLINVAR Molecular consequences of dominant Bethlem myopathy collagen VI mutations. 17886299 2007
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
0.700 CausalMutation CLINVAR