Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886044252
rs886044252
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
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: rs886044252
rs886044252
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770

2010
dbSNP: rs886044252
rs886044252
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs886044252
rs886044252
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. 18825676

2008
dbSNP: rs886044252
rs886044252
COL6A3
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994