COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; N. variants: 63
Disease: BETHLEM MYOPATHY 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727418
rs794727418
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Molecular consequences of dominant Bethlem myopathy collagen VI mutations. 17886299 2007
dbSNP: rs794727418
rs794727418
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
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
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138 2002
dbSNP: rs794727418
rs794727418
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832 1996