COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
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: rs886043919
rs886043919
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 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: rs886043919
rs886043919
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. 21280092 2011
dbSNP: rs886043919
rs886043919
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Molecular consequences of dominant Bethlem myopathy collagen VI mutations. 17886299 2007