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rs137852803

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852803(G;T)
Make rs137852803(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position174750143
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs137852803
ebirs137852803
HLIrs137852803
Exacrs137852803
Varsomers137852803
Maprs137852803
PheGenIrs137852803
hapmaprs137852803
1000 genomesrs137852803
hgdprs137852803
ensemblrs137852803
gopubmedrs137852803
geneviewrs137852803
scholarrs137852803
googlers137852803
pharmgkbrs137852803
gwascentralrs137852803
openSNPrs137852803
23andMers137852803
23andMe allrs137852803
SNP Nexus

SNPshotrs137852803
SNPdbers137852803
MSV3drs137852803
GWAS Ctlgrs137852803
Max Magnitude0
OMIM100690
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852803(A,T;A,T)
Alt rs137852803(A,T;A,T)
Reference rs137852803(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRNA1
CLNDBN Myasthenic syndrome, slow-channel congenital
Reversed 1
HGVS NC_000002.11:g.175614871C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020049.28,