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rs121909511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909511(C;T)
Make rs121909511(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4900845
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs121909511
ebirs121909511
HLIrs121909511
Exacrs121909511
Varsomers121909511
Maprs121909511
PheGenIrs121909511
hapmaprs121909511
1000 genomesrs121909511
hgdprs121909511
ensemblrs121909511
gopubmedrs121909511
geneviewrs121909511
scholarrs121909511
googlers121909511
pharmgkbrs121909511
gwascentralrs121909511
openSNPrs121909511
23andMers121909511
23andMe allrs121909511
SNP Nexus

SNPshotrs121909511
SNPdbers121909511
MSV3drs121909511
GWAS Ctlgrs121909511
Max Magnitude0
OMIM100725
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909511(T;T)
Alt rs121909511(T;T)
Reference rs121909511(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, 4a, slow-channel
Reversed 1
HGVS NC_000017.10:g.4804140G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020012.29,