Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894293
rs104894293
RAPSN
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894293
rs104894293
RAPSN
0.800 GeneticVariation UNIPROT Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. 16931511

2006
dbSNP: rs104894293
rs104894293
RAPSN
0.800 GeneticVariation UNIPROT Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. 12929188

2003
dbSNP: rs104894293
rs104894293
RAPSN
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 15328566

2004
dbSNP: rs104894293
rs104894293
RAPSN
0.800 GeneticVariation UNIPROT Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. 11791205

2002
dbSNP: rs104894293
rs104894293
RAPSN
0.800 GeneticVariation UNIPROT Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 15036330

2004
dbSNP: rs104894293
rs104894293
RAPSN
0.800 GeneticVariation UNIPROT Identification of pathogenic mutations in the human rapsyn gene. 12730725

2003
dbSNP: rs104894293
rs104894293
RAPSN
0.800 GeneticVariation UNIPROT Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330

2003
dbSNP: rs104894293
rs104894293
RAPSN
0.800 GeneticVariation UNIPROT Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 12796535

2003
dbSNP: rs104894293
rs104894293
RAPSN
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401

2007
dbSNP: rs104894294
rs104894294
RAPSN
0.800 GeneticVariation UNIPROT Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. 11791205

2002
dbSNP: rs104894294
rs104894294
RAPSN
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 15328566

2004
dbSNP: rs104894294
rs104894294
RAPSN
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401

2007
dbSNP: rs104894294
rs104894294
RAPSN
0.800 GeneticVariation UNIPROT Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 12796535

2003
dbSNP: rs104894294
rs104894294
RAPSN
0.800 GeneticVariation UNIPROT Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330

2003
dbSNP: rs104894294
rs104894294
RAPSN
0.800 GeneticVariation UNIPROT Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. 16931511

2006
dbSNP: rs104894294
rs104894294
RAPSN
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894294
rs104894294
RAPSN
0.800 GeneticVariation UNIPROT Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 15036330

2004
dbSNP: rs104894294
rs104894294
RAPSN
0.800 GeneticVariation UNIPROT Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. 12929188

2003
dbSNP: rs104894294
rs104894294
RAPSN
0.800 GeneticVariation UNIPROT Identification of pathogenic mutations in the human rapsyn gene. 12730725

2003
dbSNP: rs104894299
rs104894299
RAPSN
T 0.800 CausalMutation CLINVAR The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. 15286164

2004
dbSNP: rs104894299
rs104894299
RAPSN
T 0.800 CausalMutation CLINVAR Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 12796535

2003
dbSNP: rs104894299
rs104894299
RAPSN
0.800 GeneticVariation UNIPROT Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. 12929188

2003
dbSNP: rs104894299
rs104894299
RAPSN
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 15328566

2004
dbSNP: rs104894299
rs104894299
RAPSN
T 0.800 CausalMutation CLINVAR Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099

2014