Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs535661345
rs535661345
COL6A3
CUI: C0026848
Disease: Myopathy
Myopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs797045479
rs797045479
COL6A3
CUI: C0026848
Disease: Myopathy
Myopathy 		A 0.700 CausalMutation CLINVAR