Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766891289
rs766891289
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.700 GeneticVariation CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900

2015
dbSNP: rs766891289
rs766891289
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: rs766891289
rs766891289
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: rs766891289
rs766891289
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.700 GeneticVariation CLINVAR New aspects on patients affected by dysferlin deficient muscular dystrophy. 19528035

2010
dbSNP: rs766891289
rs766891289
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.700 GeneticVariation CLINVAR Analysis of the DYSF mutational spectrum in a large cohort of patients. 18853459

2009