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rs121909512

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909512(C;T)
Make rs121909512(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4902010
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs121909512
ebirs121909512
HLIrs121909512
Exacrs121909512
Varsomers121909512
Maprs121909512
PheGenIrs121909512
hapmaprs121909512
1000 genomesrs121909512
hgdprs121909512
ensemblrs121909512
gopubmedrs121909512
geneviewrs121909512
scholarrs121909512
googlers121909512
pharmgkbrs121909512
gwascentralrs121909512
openSNPrs121909512
23andMers121909512
23andMe allrs121909512
SNP Nexus

SNPshotrs121909512
SNPdbers121909512
MSV3drs121909512
GWAS Ctlgrs121909512
Max Magnitude0
OMIM100725
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909512(T;T)
Alt rs121909512(T;T)
Reference rs121909512(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, 4b, fast-channel
Reversed 1
HGVS NC_000017.10:g.4805305G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020014.29,