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rs137852808

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852808(C;G)
Make rs137852808(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position174748184
GeneCHRNA1
is asnp
is mentioned by
dbSNPrs137852808
ebirs137852808
HLIrs137852808
Exacrs137852808
Varsomers137852808
Maprs137852808
PheGenIrs137852808
hapmaprs137852808
1000 genomesrs137852808
hgdprs137852808
ensemblrs137852808
gopubmedrs137852808
geneviewrs137852808
scholarrs137852808
googlers137852808
pharmgkbrs137852808
gwascentralrs137852808
openSNPrs137852808
23andMers137852808
23andMe allrs137852808
SNP Nexus

SNPshotrs137852808
SNPdbers137852808
MSV3drs137852808
GWAS Ctlgrs137852808
Max Magnitude0
OMIM100690
Desc
Variant0012
Relatedalso
[PMID 22688219OA-icon.png] Transgenic mouse model reveals an unsuspected role of the acetylcholine receptor in statin-induced neuromuscular adverse drug reactions
ClinVar
Risk rs137852808(G;G)
Alt rs137852808(G;G)
Reference Rs137852808(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene CHRNA1
CLNDBN Myasthenic syndrome, slow-channel congenital
Reversed 1
HGVS NC_000002.11:g.175612912G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000020055.28,