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rs137852798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852798(C;G)
Make rs137852798(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position174753570
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs137852798
ebirs137852798
HLIrs137852798
Exacrs137852798
Varsomers137852798
Maprs137852798
PheGenIrs137852798
hapmaprs137852798
1000 genomesrs137852798
hgdprs137852798
ensemblrs137852798
gopubmedrs137852798
geneviewrs137852798
scholarrs137852798
googlers137852798
pharmgkbrs137852798
gwascentralrs137852798
openSNPrs137852798
23andMers137852798
23andMe allrs137852798
SNP Nexus

SNPshotrs137852798
SNPdbers137852798
MSV3drs137852798
GWAS Ctlgrs137852798
Max Magnitude0
OMIM100690
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852798(G,T;G,T)
Alt rs137852798(G,T;G,T)
Reference rs137852798(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRNA1
CLNDBN Myasthenic syndrome, slow-channel congenital
Reversed 1
HGVS NC_000002.11:g.175618298G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000020044.28,