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rs863224911

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224911(A;G)
Make rs863224911(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47441694
GeneRAPSN
is asnp
is mentioned by
dbSNPrs863224911
ebirs863224911
HLIrs863224911
Exacrs863224911
Varsomers863224911
Maprs863224911
PheGenIrs863224911
hapmaprs863224911
1000 genomesrs863224911
hgdprs863224911
ensemblrs863224911
gopubmedrs863224911
geneviewrs863224911
scholarrs863224911
googlers863224911
pharmgkbrs863224911
gwascentralrs863224911
openSNPrs863224911
23andMers863224911
23andMe allrs863224911
SNP Nexus

SNPshotrs863224911
SNPdbers863224911
MSV3drs863224911
GWAS Ctlgrs863224911
Max Magnitude0
ClinVar
Risk rs863224911(G;G)
Alt rs863224911(G;G)
Reference rs863224911(A;A)
Significance Probable-Pathogenic
Disease Myasthenic syndrome Pena-Shokeir syndrome type I
Variation info
Gene RAPSN
CLNDBN Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Pena-Shokeir syndrome type I
Reversed 1
HGVS NC_000011.9:g.47463246T>C
CLNSRC
CLNACC RCV000200529.1,