Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123802
rs398123802
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 GeneticVariation CLINVAR Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. 27647186

2016
dbSNP: rs398123802
rs398123802
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 GeneticVariation CLINVAR The Clinical Outcome Study for dysferlinopathy: An international multicenter study. 27602406

2016
dbSNP: rs398123802
rs398123802
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 GeneticVariation CLINVAR Dysferlinopathy in Iran: Clinical and genetic report. 26671124

2015
dbSNP: rs398123802
rs398123802
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 GeneticVariation CLINVAR A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. 25987458

2015
dbSNP: rs398123802
rs398123802
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 GeneticVariation CLINVAR Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. 24488599

2014
dbSNP: rs398123802
rs398123802
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 GeneticVariation CLINVAR Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 21522182

2011