rs375218091
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
Arthrogryposis
A
0.700
CausalMutation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
rs7103648
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
Diastolic blood pressure
G
0.700
GeneticVariation
GWASCAT
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
28739976
2017
rs7103648
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
Diastolic blood pressure
A
0.700
GeneticVariation
GWASCAT
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.
27618452
2016
rs375218091
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
Early severe fetal akinesia sequence
A
0.700
CausalMutation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
rs3824867
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
Eosinophil count procedure
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs3740685
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
Finding of Mean Corpuscular Hemoglobin
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs3824867
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
Finding of Mean Corpuscular Hemoglobin
G
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs7104036
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
Glomerular Filtration Rate
G
0.700
GeneticVariation
GWASCAT
Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.
31015462
2019
rs12419342
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
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
rs7104036
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
Major Depressive Disorder
0.700
GeneticVariation
GWASCAT
Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.
29942085
2018
rs7104036
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
Mood Disorders
0.700
GeneticVariation
GWASCAT
Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.
29942085
2018
rs104894293
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
G
0.800
CausalMutation
CLINVAR
rs104894293
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
0.800
GeneticVariation
UNIPROT
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
16931511
2006
rs104894293
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
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
rs104894293
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
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
rs104894293
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
0.800
GeneticVariation
UNIPROT
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
11791205
2002
rs104894293
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
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
rs104894293
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
0.800
GeneticVariation
UNIPROT
Identification of pathogenic mutations in the human rapsyn gene.
12730725
2003
rs104894293
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
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
rs104894293
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
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
rs104894293
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
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
rs104894294
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
0.800
GeneticVariation
UNIPROT
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
11791205
2002
rs104894294
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
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
rs104894294
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
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
rs104894294
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
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