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rs104894300

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894300(C;C)
Make rs104894300(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47448924
GeneRAPSN
is asnp
is mentioned by
dbSNPrs104894300
ebirs104894300
HLIrs104894300
Exacrs104894300
Varsomers104894300
Maprs104894300
PheGenIrs104894300
hapmaprs104894300
1000 genomesrs104894300
hgdprs104894300
ensemblrs104894300
gopubmedrs104894300
geneviewrs104894300
scholarrs104894300
googlers104894300
pharmgkbrs104894300
gwascentralrs104894300
openSNPrs104894300
23andMers104894300
23andMe allrs104894300
SNP Nexus

SNPshotrs104894300
SNPdbers104894300
MSV3drs104894300
GWAS Ctlgrs104894300
Max Magnitude0
OMIM601592
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894300(C;C)
Alt rs104894300(C;C)
Reference rs104894300(T;T)
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.47470476A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008513.4,