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rs137852806

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852806(C;C)
Make rs137852806(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position174750122
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs137852806
dbSNP (old)rs137852806
ClinGenrs137852806
ebirs137852806
HLIrs137852806
Exacrs137852806
Gnomadrs137852806
Varsomers137852806
Maprs137852806
PheGenIrs137852806
Biobankrs137852806
1000 genomesrs137852806
hgdprs137852806
ensemblrs137852806
gopubmedrs137852806
geneviewrs137852806
scholarrs137852806
googlers137852806
pharmgkbrs137852806
gwascentralrs137852806
openSNPrs137852806
23andMers137852806
23andMe allrs137852806
SNP Nexus

SNPshotrs137852806
SNPdbers137852806
MSV3drs137852806
GWAS Ctlgrs137852806
Max Magnitude0
OMIM100690
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852806(C;C)
Alt rs137852806(C;C)
Reference Rs137852806(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.175614850A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000020052.29,