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rs559933584

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs559933584(A;A)
Make rs559933584(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position47441875
GeneRAPSN
is asnp
is mentioned by
dbSNPrs559933584
ebirs559933584
HLIrs559933584
Exacrs559933584
Varsomers559933584
Maprs559933584
PheGenIrs559933584
hapmaprs559933584
1000 genomesrs559933584
hgdprs559933584
ensemblrs559933584
gopubmedrs559933584
geneviewrs559933584
scholarrs559933584
googlers559933584
pharmgkbrs559933584
gwascentralrs559933584
openSNPrs559933584
23andMers559933584
23andMe allrs559933584
SNP Nexus

SNPshotrs559933584
SNPdbers559933584
MSV3drs559933584
GWAS Ctlgrs559933584
Max Magnitude0
ClinVar
Risk rs559933584(A;A)
Alt rs559933584(A;A)
Reference rs559933584(G;G)
Significance Probable-Pathogenic
Disease Myasthenic syndrome
Variation info
Gene RAPSN
CLNDBN Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Reversed 0
HGVS NC_000011.9:g.47463427G>A
CLNSRC
CLNACC RCV000178236.1,