Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139552940
rs139552940
COL6A2
CUI: C0026848
Disease: Myopathy
Myopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs774521989
rs774521989
COL6A2
CUI: C0026848
Disease: Myopathy
Myopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs797045478
rs797045478
COL6A2
CUI: C0026848
Disease: Myopathy
Myopathy 		A 0.700 GeneticVariation CLINVAR