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rs773526895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs773526895(-;C)
Make rs773526895(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position4898864
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs773526895
dbSNP (classic)rs773526895
ClinGenrs773526895
ebirs773526895
HLIrs773526895
Exacrs773526895
Gnomadrs773526895
Varsomers773526895
LitVarrs773526895
Maprs773526895
PheGenIrs773526895
Biobankrs773526895
1000 genomesrs773526895
hgdprs773526895
ensemblrs773526895
geneviewrs773526895
scholarrs773526895
googlers773526895
pharmgkbrs773526895
gwascentralrs773526895
openSNPrs773526895
23andMers773526895
SNPshotrs773526895
SNPdbers773526895
MSV3drs773526895
GWAS Ctlgrs773526895
Max Magnitude0
ClinVar
Risk rs773526895(C;C)
Alt rs773526895(C;C)
Reference Rs773526895(-;-)
Significance Pathogenic
Disease Myasthenic syndrome Congenital myasthenic syndrome not provided
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Congenital myasthenic syndrome not provided
Reversed 0
HGVS NC_000017.10:g.4802160dupC
CLNSRC CHRNE homepage - Leiden Muscular Dystrophy pages OMIM Allelic Variant
CLNACC RCV000020024.28, RCV000235035.1, RCV000479377.1,