Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556425566
rs1556425566
COL6A1
A 0.700 CausalMutation CLINVAR Natural history of pulmonary function in collagen VI-related myopathies. 24271325

2013
dbSNP: rs1556425566
rs1556425566
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: rs1556425566
rs1556425566
COL6A1
A 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs1556425566
rs1556425566
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: rs1556425566
rs1556425566
COL6A1
A 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs1556425566
rs1556425566
COL6A1
A 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993