Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750028300
rs750028300
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.700 CausalMutation CLINVAR Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience. 26060040

2016
dbSNP: rs750028300
rs750028300
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.700 CausalMutation CLINVAR The Clinical Outcome Study for dysferlinopathy: An international multicenter study. 27602406

2016
dbSNP: rs750028300
rs750028300
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.700 CausalMutation CLINVAR Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy. 25868377

2015
dbSNP: rs750028300
rs750028300
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.700 CausalMutation CLINVAR Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. 27066573

2015
dbSNP: rs750028300
rs750028300
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.700 CausalMutation CLINVAR Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. 23243261

2013
dbSNP: rs750028300
rs750028300
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.700 CausalMutation CLINVAR Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. 16891820

2006
dbSNP: rs750028300
rs750028300
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.700 CausalMutation CLINVAR Testicular atrophy and loss of nerve growth factor-immunoreactive germ cell line in rats exposed to n-hexane and a protective effect of simultaneous exposure to toluene or xylene. 2764718

1989
dbSNP: rs750028300
rs750028300
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.700 GeneticVariation CLINVAR