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rs879255562

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs879255562(-;-)
Make rs879255562(-;T)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position4899529
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs879255562
dbSNP (classic)rs879255562
ClinGenrs879255562
ebirs879255562
HLIrs879255562
Exacrs879255562
Gnomadrs879255562
Varsomers879255562
LitVarrs879255562
Maprs879255562
PheGenIrs879255562
Biobankrs879255562
1000 genomesrs879255562
hgdprs879255562
ensemblrs879255562
geneviewrs879255562
scholarrs879255562
googlers879255562
pharmgkbrs879255562
gwascentralrs879255562
openSNPrs879255562
23andMers879255562
SNPshotrs879255562
SNPdbers879255562
MSV3drs879255562
GWAS Ctlgrs879255562
Max Magnitude0
ClinVar
Risk rs879255562(-;-)
Alt rs879255562(-;-)
Reference Rs879255562(T;T)
Significance Pathogenic
Disease Myasthenic syndrome not provided
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency not provided
Reversed 1
HGVS NC_000017.10:g.4802824delA
CLNSRC CHRNE homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant
CLNACC RCV000020016.29, RCV000326857.1,