Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042584
rs886042584
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 GeneticVariation CLINVAR Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. 30564623

2018
dbSNP: rs886042584
rs886042584
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 GeneticVariation CLINVAR Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 28403181

2017
dbSNP: rs886042584
rs886042584
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 GeneticVariation CLINVAR Novel diagnostic features of dysferlinopathies. 20544924

2010