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rs104894293

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894293(C;C)
Make rs104894293(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47441675
GeneRAPSN
is asnp
is mentioned by
dbSNPrs104894293
ebirs104894293
HLIrs104894293
Exacrs104894293
Varsomers104894293
Maprs104894293
PheGenIrs104894293
hapmaprs104894293
1000 genomesrs104894293
hgdprs104894293
ensemblrs104894293
gopubmedrs104894293
geneviewrs104894293
scholarrs104894293
googlers104894293
pharmgkbrs104894293
gwascentralrs104894293
openSNPrs104894293
23andMers104894293
23andMe allrs104894293
SNP Nexus

SNPshotrs104894293
SNPdbers104894293
MSV3drs104894293
GWAS Ctlgrs104894293
Max Magnitude0
OMIM601592
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894293(C;C)
Alt rs104894293(C;C)
Reference rs104894293(T;T)
Significance Pathogenic
Disease Myasthenic syndrome Myasthenic syndrome
Variation info
Gene RAPSN
CLNDBN Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Reversed 1
HGVS NC_000011.9:g.47463227A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008518.5, RCV000178899.1,