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rs137852801

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852801(A;A)
Make rs137852801(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position174754242
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs137852801
ebirs137852801
HLIrs137852801
Exacrs137852801
Varsomers137852801
Maprs137852801
PheGenIrs137852801
hapmaprs137852801
1000 genomesrs137852801
hgdprs137852801
ensemblrs137852801
gopubmedrs137852801
geneviewrs137852801
scholarrs137852801
googlers137852801
pharmgkbrs137852801
gwascentralrs137852801
openSNPrs137852801
23andMers137852801
23andMe allrs137852801
SNP Nexus

SNPshotrs137852801
SNPdbers137852801
MSV3drs137852801
GWAS Ctlgrs137852801
Max Magnitude0
OMIM100690
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852801(A;A)
Alt rs137852801(A;A)
Reference rs137852801(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRNA1
CLNDBN Myasthenic syndrome, slow-channel congenital
Reversed 1
HGVS NC_000002.11:g.175618970C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020047.27,