Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1230578718
rs1230578718
COL6A3
A 0.700 GeneticVariation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770

2010
dbSNP: rs1230578718
rs1230578718
COL6A3
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
COL6A3
A 0.700 GeneticVariation CLINVAR Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506

2005