Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894692
rs104894692
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.800 GeneticVariation CLINVAR Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. 19155270

2009
dbSNP: rs104894692
rs104894692
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.800 GeneticVariation CLINVAR Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. 18639457

2008
dbSNP: rs104894692
rs104894692
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.800 GeneticVariation CLINVAR High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. 16634037

2006
dbSNP: rs104894692
rs104894692
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.800 GeneticVariation CLINVAR Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. 16476814

2006
dbSNP: rs104894692
rs104894692
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.800 GeneticVariation CLINVAR FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. 15060126

2004
dbSNP: rs104894692
rs104894692
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.800 GeneticVariation CLINVAR Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 12666124

2003
dbSNP: rs104894692
rs104894692
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.800 CausalMutation CLINVAR