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rs762368691

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs762368691(-;C)
Make rs762368691(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position4902679
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs762368691
dbSNP (classic)rs762368691
ClinGenrs762368691
ebirs762368691
HLIrs762368691
Exacrs762368691
Gnomadrs762368691
Varsomers762368691
LitVarrs762368691
Maprs762368691
PheGenIrs762368691
Biobankrs762368691
1000 genomesrs762368691
hgdprs762368691
ensemblrs762368691
geneviewrs762368691
scholarrs762368691
googlers762368691
pharmgkbrs762368691
gwascentralrs762368691
openSNPrs762368691
23andMers762368691
SNPshotrs762368691
SNPdbers762368691
MSV3drs762368691
GWAS Ctlgrs762368691
Max Magnitude0
ClinVar
Risk rs762368691(C;C)
Alt rs762368691(C;C)
Reference Rs762368691(-;-)
Significance Pathogenic
Disease Congenital myasthenic syndrome not provided
Variation info
Gene C17orf107 CHRNE
CLNDBN Congenital myasthenic syndrome not provided
Reversed 0
HGVS NC_000017.10:g.4805975dupC
CLNSRC
CLNACC RCV000235039.1, RCV000487050.1,