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rs137852805

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852805(G;G)
Make rs137852805(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position174753524
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs137852805
ebirs137852805
HLIrs137852805
Exacrs137852805
Varsomers137852805
Maprs137852805
PheGenIrs137852805
hapmaprs137852805
1000 genomesrs137852805
hgdprs137852805
ensemblrs137852805
gopubmedrs137852805
geneviewrs137852805
scholarrs137852805
googlers137852805
pharmgkbrs137852805
gwascentralrs137852805
openSNPrs137852805
23andMers137852805
23andMe allrs137852805
SNP Nexus

SNPshotrs137852805
SNPdbers137852805
MSV3drs137852805
GWAS Ctlgrs137852805
Max Magnitude0
OMIM100690
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852805(G;G)
Alt rs137852805(G;G)
Reference rs137852805(T;T)
Significance Pathogenic
Disease Congenital myasthenic syndrome 1B
Variation info
Gene CHRNA1
CLNDBN Congenital myasthenic syndrome 1B, fast-channel
Reversed 1
HGVS NC_000002.11:g.175618252A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000020051.28,