Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039573
rs886039573
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.700 GeneticVariation CLINVAR The Clinical Outcome Study for dysferlinopathy: An international multicenter study. 27602406

2016
dbSNP: rs886039573
rs886039573
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.700 GeneticVariation CLINVAR Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. 24488599

2014
dbSNP: rs886039573
rs886039573
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.700 GeneticVariation CLINVAR Identification of splicing defects caused by mutations in the dysferlin gene. 25312915

2014
dbSNP: rs886039573
rs886039573
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.700 GeneticVariation CLINVAR Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 21522182

2011
dbSNP: rs886039573
rs886039573
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.700 GeneticVariation CLINVAR Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. 19154541

2009