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: rs1230578718
rs1230578718
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 GeneticVariation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770 2010
dbSNP: rs1230578718
rs1230578718
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 GeneticVariation CLINVAR Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 18366090 2008
dbSNP: rs1230578718
rs1230578718
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 GeneticVariation CLINVAR Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506 2005