Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770711331
rs770711331
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		T 0.700 GeneticVariation CLINVAR A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. 18691338

2009
dbSNP: rs770711331
rs770711331
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		T 0.700 GeneticVariation CLINVAR Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. 18639457

2008
dbSNP: rs770711331
rs770711331
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		T 0.700 GeneticVariation CLINVAR Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. 17446099

2007
dbSNP: rs770711331
rs770711331
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		T 0.700 GeneticVariation CLINVAR Brain MRI abnormalities in muscular dystrophy due to FKRP mutations. 16368217

2006