Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123643
rs398123643
COL6A1
0.710 GeneticVariation BEFREE We report a 14-year-old boy who had both Bethlem myopathy and recurrent hematuria and who carried a known de novo COL6A1 missense mutation c.877G > A (p.G293R). 30808312

2019
dbSNP: rs398123643
rs398123643
COL6A1
A 0.710 CausalMutation CLINVAR GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction. 26867126

2016
dbSNP: rs398123643
rs398123643
COL6A1
A 0.710 CausalMutation CLINVAR Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. 24223098

2013
dbSNP: rs398123643
rs398123643
COL6A1
A 0.710 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: rs398123643
rs398123643
COL6A1
A 0.710 CausalMutation CLINVAR Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. 22075033

2012
dbSNP: rs398123643
rs398123643
COL6A1
A 0.710 CausalMutation CLINVAR Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling. 22975586

2012
dbSNP: rs398123643
rs398123643
COL6A1
A 0.710 CausalMutation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770

2010