Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042827
rs886042827
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.700 CausalMutation CLINVAR The Clinical Outcome Study for dysferlinopathy: An international multicenter study. 27602406

2016
dbSNP: rs886042827
rs886042827
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.700 CausalMutation CLINVAR Dysferlin mutations and mitochondrial dysfunction. 27666772

2016