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

rs193919341

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193919341(C;C)
Make rs193919341(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4902461
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs193919341
ebirs193919341
HLIrs193919341
Exacrs193919341
Varsomers193919341
Maprs193919341
PheGenIrs193919341
hapmaprs193919341
1000 genomesrs193919341
hgdprs193919341
ensemblrs193919341
gopubmedrs193919341
geneviewrs193919341
scholarrs193919341
googlers193919341
pharmgkbrs193919341
gwascentralrs193919341
openSNPrs193919341
23andMers193919341
23andMe allrs193919341
SNP Nexus

SNPshotrs193919341
SNPdbers193919341
MSV3drs193919341
GWAS Ctlgrs193919341
Max Magnitude0
ClinVar
Risk rs193919341(C;C)
Alt rs193919341(C;C)
Reference rs193919341(T;T)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, 4b, fast-channel
Reversed 1
HGVS NC_000017.10:g.4805756A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000033219.29,