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rs121909510

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909510(A;C)
Make rs121909510(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position4900860
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs121909510
ebirs121909510
HLIrs121909510
Exacrs121909510
Varsomers121909510
Maprs121909510
PheGenIrs121909510
hapmaprs121909510
1000 genomesrs121909510
hgdprs121909510
ensemblrs121909510
gopubmedrs121909510
geneviewrs121909510
scholarrs121909510
googlers121909510
pharmgkbrs121909510
gwascentralrs121909510
openSNPrs121909510
23andMers121909510
23andMe allrs121909510
SNP Nexus

SNPshotrs121909510
SNPdbers121909510
MSV3drs121909510
GWAS Ctlgrs121909510
Max Magnitude0
OMIM100725
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909510(C;C)
Alt rs121909510(C;C)
Reference rs121909510(A;A)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, 4a, slow-channel
Reversed 1
HGVS NC_000017.10:g.4804155T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000020011.28,