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rs137852804

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852804(A;A)
Make rs137852804(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position174750035
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs137852804
ebirs137852804
HLIrs137852804
Exacrs137852804
Varsomers137852804
Maprs137852804
PheGenIrs137852804
hapmaprs137852804
1000 genomesrs137852804
hgdprs137852804
ensemblrs137852804
gopubmedrs137852804
geneviewrs137852804
scholarrs137852804
googlers137852804
pharmgkbrs137852804
gwascentralrs137852804
openSNPrs137852804
23andMers137852804
23andMe allrs137852804
SNP Nexus

SNPshotrs137852804
SNPdbers137852804
MSV3drs137852804
GWAS Ctlgrs137852804
Max Magnitude0
OMIM100690
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852804(A;A)
Alt rs137852804(A;A)
Reference rs137852804(G;G)
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.175614763C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020050.29,