Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894681
rs104894681
FKRP
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs104894681
rs104894681
FKRP
0.800 GeneticVariation UNIPROT A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 17336067

2007
dbSNP: rs104894681
rs104894681
FKRP
0.800 GeneticVariation UNIPROT New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 14652796

2004
dbSNP: rs104894681
rs104894681
FKRP
0.800 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 12666124

2003
dbSNP: rs104894681
rs104894681
FKRP
0.800 GeneticVariation UNIPROT FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 12654965

2003
dbSNP: rs104894681
rs104894681
FKRP
0.800 GeneticVariation UNIPROT 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: rs104894681
rs104894681
FKRP
T 0.800 GeneticVariation CLINVAR

dbSNP: rs28937903
rs28937903
FKRP
0.710 GeneticVariation BEFREE The patients shared the compound heterozygous 1486T > A, 1364C > A mutation in the FKRP gene suggesting that the association of a compound heterozygous state of mutation responsible for LGMD2I and the MDC1C phenotype could lead to cardiac involvement. 18671187

2008
dbSNP: rs28937903
rs28937903
FKRP
0.710 GeneticVariation UNIPROT A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 17336067

2007
dbSNP: rs28937903
rs28937903
FKRP
0.710 GeneticVariation UNIPROT New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 14652796

2004
dbSNP: rs28937903
rs28937903
FKRP
0.710 GeneticVariation UNIPROT FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 12654965

2003
dbSNP: rs28937903
rs28937903
FKRP
0.710 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 12666124

2003
dbSNP: rs28937900
rs28937900
FKRP
0.710 GeneticVariation BEFREE Patients with the C826A change had the clinically less severe LGMD2I phenotype, suggesting that this is a less disruptive FKRP mutation than those found in MDC1C. 11741828

2001
dbSNP: rs28937903
rs28937903
FKRP
0.710 GeneticVariation UNIPROT 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: rs28937900
rs28937900
FKRP
A 0.710 CausalMutation CLINVAR

dbSNP: rs104894679
rs104894679
FKRP
0.700 GeneticVariation UNIPROT A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 17336067

2007
dbSNP: rs121908110
rs121908110
FKRP
0.700 GeneticVariation UNIPROT A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 17336067

2007
dbSNP: rs1555739117
rs1555739117
FKRP
0.700 GeneticVariation UNIPROT A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 17336067

2007
dbSNP: rs28937902
rs28937902
FKRP
0.700 GeneticVariation UNIPROT A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 17336067

2007
dbSNP: rs28937904
rs28937904
FKRP
0.700 GeneticVariation UNIPROT A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 17336067

2007
dbSNP: rs104894679
rs104894679
FKRP
0.700 GeneticVariation UNIPROT New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 14652796

2004
dbSNP: rs121908110
rs121908110
FKRP
0.700 GeneticVariation UNIPROT New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 14652796

2004
dbSNP: rs1555739117
rs1555739117
FKRP
0.700 GeneticVariation UNIPROT New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 14652796

2004
dbSNP: rs28937902
rs28937902
FKRP
0.700 GeneticVariation UNIPROT New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 14652796

2004
dbSNP: rs28937904
rs28937904
FKRP
0.700 GeneticVariation UNIPROT New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 14652796

2004