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rs863224912

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224912(A;G)
Make rs863224912(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47447819
GeneRAPSN
is asnp
is mentioned by
dbSNPrs863224912
ebirs863224912
HLIrs863224912
Exacrs863224912
Varsomers863224912
Maprs863224912
PheGenIrs863224912
hapmaprs863224912
1000 genomesrs863224912
hgdprs863224912
ensemblrs863224912
gopubmedrs863224912
geneviewrs863224912
scholarrs863224912
googlers863224912
pharmgkbrs863224912
gwascentralrs863224912
openSNPrs863224912
23andMers863224912
23andMe allrs863224912
SNP Nexus

SNPshotrs863224912
SNPdbers863224912
MSV3drs863224912
GWAS Ctlgrs863224912
Max Magnitude0
ClinVar
Risk rs863224912(G;G)
Alt rs863224912(G;G)
Reference rs863224912(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.47469371T>C
CLNSRC
CLNACC RCV000200529.1,