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rs137852799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852799(A;A)
Make rs137852799(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position174754233
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs137852799
ebirs137852799
HLIrs137852799
Exacrs137852799
Varsomers137852799
Maprs137852799
PheGenIrs137852799
hapmaprs137852799
1000 genomesrs137852799
hgdprs137852799
ensemblrs137852799
gopubmedrs137852799
geneviewrs137852799
scholarrs137852799
googlers137852799
pharmgkbrs137852799
gwascentralrs137852799
openSNPrs137852799
23andMers137852799
23andMe allrs137852799
SNP Nexus

SNPshotrs137852799
SNPdbers137852799
MSV3drs137852799
GWAS Ctlgrs137852799
Max Magnitude0
OMIM100690
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852799(A,C;A,C)
Alt rs137852799(A,C;A,C)
Reference rs137852799(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRNA1
CLNDBN Myasthenic syndrome, slow-channel congenital
Reversed 1
HGVS NC_000002.11:g.175618961C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020045.28,