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rs121909517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909517(C;C)
Make rs121909517(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position4899036
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs121909517
ebirs121909517
HLIrs121909517
Exacrs121909517
Varsomers121909517
Maprs121909517
PheGenIrs121909517
hapmaprs121909517
1000 genomesrs121909517
hgdprs121909517
ensemblrs121909517
gopubmedrs121909517
geneviewrs121909517
scholarrs121909517
googlers121909517
pharmgkbrs121909517
gwascentralrs121909517
openSNPrs121909517
23andMers121909517
23andMe allrs121909517
SNP Nexus

SNPshotrs121909517
SNPdbers121909517
MSV3drs121909517
GWAS Ctlgrs121909517
Max Magnitude0
OMIM100725
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121909517(C,T;C,T)
Alt rs121909517(C,T;C,T)
Reference rs121909517(G;G)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, 4b, fast-channel
Reversed 1
HGVS NC_000017.10:g.4802331C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000020029.29,