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rs121909514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909514(G;T)
Make rs121909514(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4901932
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs121909514
ebirs121909514
HLIrs121909514
Exacrs121909514
Varsomers121909514
Maprs121909514
PheGenIrs121909514
hapmaprs121909514
1000 genomesrs121909514
hgdprs121909514
ensemblrs121909514
gopubmedrs121909514
geneviewrs121909514
scholarrs121909514
googlers121909514
pharmgkbrs121909514
gwascentralrs121909514
openSNPrs121909514
23andMers121909514
23andMe allrs121909514
SNP Nexus

SNPshotrs121909514
SNPdbers121909514
MSV3drs121909514
GWAS Ctlgrs121909514
Max Magnitude0
OMIM100725
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909514(T;T)
Alt rs121909514(T;T)
Reference rs121909514(G;G)
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.4805227C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020013.28,