Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912938
rs121912938
COL6A1
A 0.700 CausalMutation CLINVAR Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy. 24801232

2014
dbSNP: rs121912938
rs121912938
COL6A1
A 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: rs121912938
rs121912938
COL6A1
A 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs121912938
rs121912938
COL6A1
A 0.700 CausalMutation CLINVAR Natural history of Ullrich congenital muscular dystrophy. 19564581

2009
dbSNP: rs121912938
rs121912938
COL6A1
A 0.700 CausalMutation CLINVAR Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. 18825676

2008
dbSNP: rs121912938
rs121912938
COL6A1
A 0.700 CausalMutation CLINVAR Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease. 17785674

2007
dbSNP: rs121912938
rs121912938
COL6A1
A 0.700 CausalMutation CLINVAR Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448

2005
dbSNP: rs121912938
rs121912938
COL6A1
A 0.700 CausalMutation CLINVAR Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. 16130093

2005
dbSNP: rs121912938
rs121912938
COL6A1
A 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994