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rs121909515

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909515(C;T)
Make rs121909515(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4899509
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs121909515
ebirs121909515
HLIrs121909515
Exacrs121909515
Varsomers121909515
Maprs121909515
PheGenIrs121909515
hapmaprs121909515
1000 genomesrs121909515
hgdprs121909515
ensemblrs121909515
gopubmedrs121909515
geneviewrs121909515
scholarrs121909515
googlers121909515
pharmgkbrs121909515
gwascentralrs121909515
openSNPrs121909515
23andMers121909515
23andMe allrs121909515
SNP Nexus

SNPshotrs121909515
SNPdbers121909515
MSV3drs121909515
GWAS Ctlgrs121909515
Max Magnitude0
OMIM100725
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121909515(A,T;A,T)
Alt rs121909515(A,T;A,T)
Reference rs121909515(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Reversed 1
HGVS NC_000017.10:g.4802804G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020026.29,