Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894294
rs104894294
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 15036330 2004
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. 15286164 2004
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 15328566 2004
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 15036330 2004
dbSNP: rs104894300
rs104894300
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 15328566 2004
dbSNP: rs104894300
rs104894300
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 15036330 2004
dbSNP: rs121909254
rs121909254
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 15036330 2004
dbSNP: rs121909254
rs121909254
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 15328566 2004
dbSNP: rs121909255
rs121909255
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 15036330 2004
dbSNP: rs121909255
rs121909255
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 15328566 2004
dbSNP: rs104894293
rs104894293
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. 12929188 2003
dbSNP: rs104894293
rs104894293
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Identification of pathogenic mutations in the human rapsyn gene. 12730725 2003
dbSNP: rs104894293
rs104894293
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330 2003
dbSNP: rs104894293
rs104894293
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 12796535 2003
dbSNP: rs104894294
rs104894294
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 12796535 2003
dbSNP: rs104894294
rs104894294
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330 2003
dbSNP: rs104894294
rs104894294
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. 12929188 2003
dbSNP: rs104894294
rs104894294
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Identification of pathogenic mutations in the human rapsyn gene. 12730725 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 12796535 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. 12929188 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Identification of pathogenic mutations in the human rapsyn gene. 12730725 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.800 GeneticVariation UNIPROT Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. 12807980 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. 12929188 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330 2003