Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894681
rs104894681
FKRP
T 0.800 GeneticVariation CLINVAR

dbSNP: rs28937900
rs28937900
FKRP
A 0.710 CausalMutation CLINVAR

dbSNP: rs1057520772
rs1057520772
FKRP
0.700 GeneticVariation UNIPROT

dbSNP: rs143793528
rs143793528
FKRP
0.700 GeneticVariation UNIPROT

dbSNP: rs543163491
rs543163491
FKRP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs752582904
rs752582904
FKRP
0.700 GeneticVariation UNIPROT

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

2007
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: 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 FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 12654965

2003
dbSNP: rs28937903
rs28937903
FKRP
0.710 GeneticVariation UNIPROT FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 12654965

2003
dbSNP: rs104894679
rs104894679
FKRP
0.700 GeneticVariation UNIPROT FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 12654965

2003
dbSNP: rs121908110
rs121908110
FKRP
0.700 GeneticVariation UNIPROT FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 12654965

2003
dbSNP: rs1555739117
rs1555739117
FKRP
0.700 GeneticVariation UNIPROT FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 12654965

2003
dbSNP: rs28937902
rs28937902
FKRP
0.700 GeneticVariation UNIPROT FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 12654965

2003
dbSNP: rs28937904
rs28937904
FKRP
0.700 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: 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: rs104894679
rs104894679
FKRP
0.700 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: rs121908110
rs121908110
FKRP
0.700 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