Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894293
rs104894293
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894294
rs104894294
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		A 0.800 CausalMutation CLINVAR
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 GeneticVariation CLINVAR
dbSNP: rs104894300
rs104894300
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121909254
rs121909254
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121909255
rs121909255
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894294
rs104894294
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0026848
Disease:
Myopathy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0026848
Disease:
Myopathy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease:
Pena-Shokeir syndrome type I 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs104894301
rs104894301
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1479498379
rs1479498379
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1479498379
rs1479498379
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease:
Pena-Shokeir syndrome type I 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555142603
rs1555142603
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease:
Pena-Shokeir syndrome type I 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555142603
rs1555142603
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs45547231
rs45547231
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786200904
rs786200904
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		AAGAAC 0.700 CausalMutation CLINVAR
dbSNP: rs786205885
rs786205885
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		TAG 0.700 CausalMutation CLINVAR
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		T 0.750 CausalMutation CLINVAR A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. 15482960 2004
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1837091
Disease:
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.700 CausalMutation CLINVAR A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. 15482960 2004
dbSNP: rs786200905
rs786200905
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		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
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease:
Pena-Shokeir syndrome type I 		C 0.700 CausalMutation CLINVAR A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. 22326364 2012
dbSNP: rs12419342
rs12419342
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0595921
Disease:
Intraocular pressure disorder 		0.010 GeneticVariation BEFREE An analysis of 12 known SNPs for IOP showed that rs12419342 in <i>RAPSN</i> on chromosome 11 was nominally associated in Norfolk Island (NI; p = 0.0021). 28966548 2017
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 Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease:
Pena-Shokeir syndrome type I 		T 0.700 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
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 Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401 2007