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rs398122830

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs398122830(-;-)
Make rs398122830(-;TCT)
ReferenceGRCh38 38.1/141
Chromosome17
Position4900816
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs398122830
ebirs398122830
HLIrs398122830
Exacrs398122830
Varsomers398122830
Maprs398122830
PheGenIrs398122830
hapmaprs398122830
1000 genomesrs398122830
hgdprs398122830
ensemblrs398122830
gopubmedrs398122830
geneviewrs398122830
scholarrs398122830
googlers398122830
pharmgkbrs398122830
gwascentralrs398122830
openSNPrs398122830
23andMers398122830
23andMe allrs398122830
SNP Nexus

SNPshotrs398122830
SNPdbers398122830
MSV3drs398122830
GWAS Ctlgrs398122830
Max Magnitude0
ClinVar
Risk rs398122830(;)
Alt rs398122830(;)
Reference rs398122830(TCT;TCT)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, 4a, slow-channel
Reversed 1
HGVS NC_000017.10:g.4804111_4804113delAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000033234.29,