COL6A1, collagen type VI alpha 1 chain, 1291

N. diseases: 164; N. variants: 45
Disease: BETHLEM MYOPATHY 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556425468
rs1556425468
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
dbSNP: rs1556425468
rs1556425468
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993
dbSNP: rs1556425468
rs1556425468
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448 2005
dbSNP: rs1556425468
rs1556425468
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236 2009
dbSNP: rs1556425468
rs1556425468
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation 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