Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786200905
rs786200905
RAPSN
C 0.700 CausalMutation CLINVAR A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. 22326364

2012
dbSNP: rs786200905
rs786200905
RAPSN
C 0.700 CausalMutation CLINVAR Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 19620612

2009
dbSNP: rs786200905
rs786200905
RAPSN
C 0.700 CausalMutation CLINVAR Regulation of the rapsyn promoter by kaiso and delta-catenin. 15282317

2004
dbSNP: rs786200905
rs786200905
RAPSN
C 0.700 CausalMutation CLINVAR Distinct phenotypes of congenital acetylcholine receptor deficiency. 15145336

2004
dbSNP: rs786200905
rs786200905
RAPSN
C 0.700 CausalMutation CLINVAR E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. 12651869

2003
dbSNP: rs104894301
rs104894301
RAPSN
T 0.700 CausalMutation CLINVAR

dbSNP: rs1479498379
rs1479498379
RAPSN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555142603
rs1555142603
RAPSN
A 0.700 CausalMutation CLINVAR

dbSNP: rs45547231
rs45547231
RAPSN
T 0.700 CausalMutation CLINVAR

dbSNP: rs786200904
rs786200904
RAPSN
AAGAAC 0.700 CausalMutation CLINVAR

dbSNP: rs786205885
rs786205885
RAPSN
TAG 0.700 CausalMutation CLINVAR

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
dbSNP: rs104894299
rs104894299
RAPSN
T 0.800 CausalMutation CLINVAR Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome. 25194721

2014
dbSNP: rs104894299
rs104894299
RAPSN
T 0.800 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
dbSNP: rs104894299
rs104894299
RAPSN
T 0.800 CausalMutation CLINVAR Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. 21305573

2011
dbSNP: rs104894299
rs104894299
RAPSN
T 0.800 CausalMutation CLINVAR Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. 20157724

2010
dbSNP: rs104894299
rs104894299
RAPSN
T 0.800 CausalMutation CLINVAR Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 19620612

2009
dbSNP: rs121909254
rs121909254
RAPSN
T 0.800 GeneticVariation CLINVAR Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 19620612

2009
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 Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401

2007
dbSNP: rs104894299
rs104894299
RAPSN
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401

2007
dbSNP: rs104894300
rs104894300
RAPSN
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401

2007
dbSNP: rs121909254
rs121909254
RAPSN
T 0.800 GeneticVariation CLINVAR Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401

2007
dbSNP: rs121909254
rs121909254
RAPSN
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401

2007
dbSNP: rs121909255
rs121909255
RAPSN
0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401

2007