rs267606748, COL6A2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
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
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236 2009
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
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
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993
Ullrich congenital muscular dystrophy 1
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
0.700 GeneticVariation UNIPROT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
0.700 CausalMutation CLINVAR