Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		0.750 GeneticVariation BEFREE Remarkably, several founder mutations made a large contribution to CMS in Spain: RAPSN c.264C > A (p.Asn88Lys), CHRNE c.130insG (Glu44Glyfs*3), CHRNE c.1353insG (p.Asn542Gluf*4), DOK7 c.1124_1127dup (p.Ala378Serfs*30), and particularly frequent in Spain in comparison with other populations, COLQ c.1289A > C (p.Tyr430Ser). 29054425 2017
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		0.750 GeneticVariation BEFREE Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation. 14659409 2004
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		0.750 GeneticVariation BEFREE However, absence of a N88K allele does not exclude underlying RAPSN mutations as cause of the congenital myasthenic syndromes. 16931511 2006
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		0.750 GeneticVariation BEFREE The RAPSN mutation N88K is a frequent cause of rapsyn-related CMS in European patients. 12796535 2003
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0751882
Disease:
Myasthenic Syndromes, Congenital 		0.750 GeneticVariation BEFREE Direct sequencing of RAPSN in two children with congenital myasthenic syndromes with no mutation in any of the AChR subunits identified two heterozygous recessive mutations in each: a previously characterized N88K mutation in both, and a second frameshifting mutation in Patient (Pt) 1 and a nonsense mutation in Pt 2. 15036330 2004
dbSNP: rs104894299
rs104894299
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0751885
Disease:
Myasthenic Syndromes, Congenital, Slow Channel 		0.010 GeneticVariation BEFREE Genetic testing for CMS revealed a homozygous pathogenic mutation in the rapsyn (RAPSN) gene (p.Asn88Lys). 27397848 2017
dbSNP: rs121909255
rs121909255
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease:
Pena-Shokeir syndrome type I 		0.010 GeneticVariation BEFREE In the first family, FADS relates to a homozygous c.484G > A (p.Glu162Lys) mutation in the gene RAPSN. 28495245 2017
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: 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 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 		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 		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
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR Unusual features in a boy with the rapsyn N88K mutation. 17190963 2006
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 Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome. 25194721 2014
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 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
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
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 humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. 11791205 2002
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 Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 19620612 2009
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: C4225367
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		T 0.800 CausalMutation CLINVAR 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 Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. 21305573 2011
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