Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912936
rs121912936
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs121912936
rs121912936
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448

2005
dbSNP: rs121912936
rs121912936
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. 15955946

2005
dbSNP: rs121912936
rs121912936
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002
dbSNP: rs121912936
rs121912936
COL6A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832

1996