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rs137852807

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852807(C;C)
Make rs137852807(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position174754305
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs137852807
ebirs137852807
HLIrs137852807
Exacrs137852807
Varsomers137852807
Maprs137852807
PheGenIrs137852807
hapmaprs137852807
1000 genomesrs137852807
hgdprs137852807
ensemblrs137852807
gopubmedrs137852807
geneviewrs137852807
scholarrs137852807
googlers137852807
pharmgkbrs137852807
gwascentralrs137852807
openSNPrs137852807
23andMers137852807
23andMe allrs137852807
SNP Nexus

SNPshotrs137852807
SNPdbers137852807
MSV3drs137852807
GWAS Ctlgrs137852807
Max Magnitude0
OMIM100690
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852807(A,C;A,C)
Alt rs137852807(A,C;A,C)
Reference rs137852807(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.175619033C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000020053.28,