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 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
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 Collagen structure and stability. 19344236

2009
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 Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. 18825676

2008
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 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 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