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rs137852800

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852800(C;T)
Make rs137852800(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position174750127
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs137852800
ebirs137852800
HLIrs137852800
Exacrs137852800
Varsomers137852800
Maprs137852800
PheGenIrs137852800
hapmaprs137852800
1000 genomesrs137852800
hgdprs137852800
ensemblrs137852800
gopubmedrs137852800
geneviewrs137852800
scholarrs137852800
googlers137852800
pharmgkbrs137852800
gwascentralrs137852800
openSNPrs137852800
23andMers137852800
23andMe allrs137852800
SNP Nexus

SNPshotrs137852800
SNPdbers137852800
MSV3drs137852800
GWAS Ctlgrs137852800
Max Magnitude0
OMIM100690
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852800(T;T)
Alt rs137852800(T;T)
Reference rs137852800(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRNA1
CLNDBN Myasthenic syndrome, slow-channel congenital
Reversed 1
HGVS NC_000002.11:g.175614855G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020046.27,