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rs104894301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894301(A;A)
Make rs104894301(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position47441716
GeneRAPSN
is asnp
is mentioned by
dbSNPrs104894301
ebirs104894301
HLIrs104894301
Exacrs104894301
Varsomers104894301
Maprs104894301
PheGenIrs104894301
hapmaprs104894301
1000 genomesrs104894301
hgdprs104894301
ensemblrs104894301
gopubmedrs104894301
geneviewrs104894301
scholarrs104894301
googlers104894301
pharmgkbrs104894301
gwascentralrs104894301
openSNPrs104894301
23andMers104894301
23andMe allrs104894301
SNP Nexus

SNPshotrs104894301
SNPdbers104894301
MSV3drs104894301
GWAS Ctlgrs104894301
Max Magnitude0
OMIM601592
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894301(A,T;A,T)
Alt rs104894301(A,T;A,T)
Reference rs104894301(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.47463268G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008516.4,