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rs137852811

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852811(A;A)
Make rs137852811(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position7454329
GeneCHRNB1
is asnp
is mentioned by
dbSNPrs137852811
ebirs137852811
HLIrs137852811
Exacrs137852811
Varsomers137852811
Maprs137852811
PheGenIrs137852811
hapmaprs137852811
1000 genomesrs137852811
hgdprs137852811
ensemblrs137852811
gopubmedrs137852811
geneviewrs137852811
scholarrs137852811
googlers137852811
pharmgkbrs137852811
gwascentralrs137852811
openSNPrs137852811
23andMers137852811
23andMe allrs137852811
SNP Nexus

SNPshotrs137852811
SNPdbers137852811
MSV3drs137852811
GWAS Ctlgrs137852811
Max Magnitude0
OMIM100710
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852811(A;A)
Alt rs137852811(A;A)
Reference rs137852811(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRNB1
CLNDBN Myasthenic syndrome, congenital, 2a, slow-channel
Reversed 0
HGVS NC_000017.10:g.7357648C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020041.29,