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rs137852810

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852810(A;A)
Make rs137852810(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position7454341
GeneCHRNB1
is asnp
is mentioned by
dbSNPrs137852810
ebirs137852810
HLIrs137852810
Exacrs137852810
Varsomers137852810
Maprs137852810
PheGenIrs137852810
hapmaprs137852810
1000 genomesrs137852810
hgdprs137852810
ensemblrs137852810
gopubmedrs137852810
geneviewrs137852810
scholarrs137852810
googlers137852810
pharmgkbrs137852810
gwascentralrs137852810
openSNPrs137852810
23andMers137852810
23andMe allrs137852810
SNP Nexus

SNPshotrs137852810
SNPdbers137852810
MSV3drs137852810
GWAS Ctlgrs137852810
Max Magnitude0
OMIM100710
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852810(A;A)
Alt rs137852810(A;A)
Reference rs137852810(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRNB1
CLNDBN Myasthenic syndrome, congenital, 2a, slow-channel
Reversed 0
HGVS NC_000017.10:g.7357660G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020040.29,