Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201049092
rs201049092
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Respiratory and cardiac function in japanese patients with dysferlinopathy. 26088049

2016
dbSNP: rs201049092
rs201049092
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900

2015
dbSNP: rs201049092
rs201049092
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.800 GeneticVariation CLINVAR Analysis of the DYSF mutational spectrum in a large cohort of patients. 18853459

2009
dbSNP: rs201049092
rs201049092
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Analysis of the DYSF mutational spectrum in a large cohort of patients. 18853459

2009
dbSNP: rs201049092
rs201049092
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.800 GeneticVariation CLINVAR Dysfunction of dysferlin-deficient hearts. 17828519

2007
dbSNP: rs201049092
rs201049092
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Dysfunction of dysferlin-deficient hearts. 17828519

2007
dbSNP: rs201049092
rs201049092
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.800 GeneticVariation CLINVAR Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. 15469449

2004
dbSNP: rs201049092
rs201049092
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. 15469449

2004
dbSNP: rs201049092
rs201049092
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.800 GeneticVariation CLINVAR Gene expression profiling in dysferlinopathies using a dedicated muscle microarray. 12471055

2002