Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894679
rs104894679
FKRP
CUI: C4016970
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5 		G 0.700 CausalMutation CLINVAR

dbSNP: rs104894680
rs104894680
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. 14742276

2004
dbSNP: rs104894680
rs104894680
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR The phenotype of limb-girdle muscular dystrophy type 2I. 12707425

2003
dbSNP: rs104894680
rs104894680
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 12666124

2003
dbSNP: rs104894680
rs104894680
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 11592034

2001
dbSNP: rs104894680
rs104894680
FKRP
CUI: C4016970
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894681
rs104894681
FKRP
CUI: C3150413
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs104894681
rs104894681
FKRP
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs104894681
rs104894681
FKRP
CUI: C4016970
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5 		T 0.700 CausalMutation CLINVAR

dbSNP: rs104894681
rs104894681
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs104894682
rs104894682
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894682
rs104894682
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894689
rs104894689
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894691
rs104894691
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		C 0.700 CausalMutation CLINVAR Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I. 24447024

2014
dbSNP: rs104894691
rs104894691
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		C 0.700 CausalMutation CLINVAR FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. 15060126

2004
dbSNP: rs104894691
rs104894691
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		C 0.700 CausalMutation CLINVAR Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 14647208

2003
dbSNP: rs104894692
rs104894692
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation 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: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. 16634037

2006
dbSNP: rs104894692
rs104894692
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. 16476814

2006
dbSNP: rs104894692
rs104894692
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. 15121789

2004
dbSNP: rs104894692
rs104894692
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 12666124

2003
dbSNP: rs1060502109
rs1060502109
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1191737604
rs1191737604
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		GC 0.700 GeneticVariation CLINVAR Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations. 24139536

2013
dbSNP: rs121908110
rs121908110
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		G 0.700 CausalMutation CLINVAR A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 17336067

2007
dbSNP: rs121908110
rs121908110
FKRP
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR