Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746315830
rs746315830
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 CausalMutation CLINVAR Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 21522182

2011