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

rs121909513

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909513(C;T)
Make rs121909513(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4902311
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs121909513
ebirs121909513
HLIrs121909513
Exacrs121909513
Varsomers121909513
Maprs121909513
PheGenIrs121909513
hapmaprs121909513
1000 genomesrs121909513
hgdprs121909513
ensemblrs121909513
gopubmedrs121909513
geneviewrs121909513
scholarrs121909513
googlers121909513
pharmgkbrs121909513
gwascentralrs121909513
openSNPrs121909513
23andMers121909513
23andMe allrs121909513
SNP Nexus

SNPshotrs121909513
SNPdbers121909513
MSV3drs121909513
GWAS Ctlgrs121909513
Max Magnitude0
OMIM100725
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909513(G,T;G,T)
Alt rs121909513(G,T;G,T)
Reference rs121909513(C;C)
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.4805606G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020015.28,