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rs104894294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894294(C;T)
Make rs104894294(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47447853
GeneRAPSN
is asnp
is mentioned by
dbSNPrs104894294
ebirs104894294
HLIrs104894294
Exacrs104894294
Varsomers104894294
Maprs104894294
PheGenIrs104894294
hapmaprs104894294
1000 genomesrs104894294
hgdprs104894294
ensemblrs104894294
gopubmedrs104894294
geneviewrs104894294
scholarrs104894294
googlers104894294
pharmgkbrs104894294
gwascentralrs104894294
openSNPrs104894294
23andMers104894294
23andMe allrs104894294
SNP Nexus

SNPshotrs104894294
SNPdbers104894294
MSV3drs104894294
GWAS Ctlgrs104894294
Max Magnitude0
OMIM601592
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894294(T;T)
Alt rs104894294(T;T)
Reference rs104894294(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene RAPSN
CLNDBN Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
Reversed 1
HGVS NC_000011.9:g.47469405G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008520.4,