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rs137852802

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852802(G;T)
Make rs137852802(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position174750082
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs137852802
ebirs137852802
HLIrs137852802
Exacrs137852802
Varsomers137852802
Maprs137852802
PheGenIrs137852802
hapmaprs137852802
1000 genomesrs137852802
hgdprs137852802
ensemblrs137852802
gopubmedrs137852802
geneviewrs137852802
scholarrs137852802
googlers137852802
pharmgkbrs137852802
gwascentralrs137852802
openSNPrs137852802
23andMers137852802
23andMe allrs137852802
SNP Nexus

SNPshotrs137852802
SNPdbers137852802
MSV3drs137852802
GWAS Ctlgrs137852802
Max Magnitude0
OMIM100690
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852802(T;T)
Alt rs137852802(T;T)
Reference rs137852802(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRNA1
CLNDBN Myasthenic syndrome, slow-channel congenital
Reversed 1
HGVS NC_000002.11:g.175614810C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020048.29,