Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909516(C;T)
Make rs121909516(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4901944
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs121909516
ebirs121909516
HLIrs121909516
Exacrs121909516
Varsomers121909516
Maprs121909516
PheGenIrs121909516
hapmaprs121909516
1000 genomesrs121909516
hgdprs121909516
ensemblrs121909516
gopubmedrs121909516
geneviewrs121909516
scholarrs121909516
googlers121909516
pharmgkbrs121909516
gwascentralrs121909516
openSNPrs121909516
23andMers121909516
23andMe allrs121909516
SNP Nexus

SNPshotrs121909516
SNPdbers121909516
MSV3drs121909516
GWAS Ctlgrs121909516
GMAF0.0004591
Max Magnitude0
OMIM100725
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121909516(G,T;G,T)
Alt rs121909516(G,T;G,T)
Reference rs121909516(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.4805239G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020028.28,