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rs483353045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483353045(A;A)
Make rs483353045(A;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position4902011
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs483353045
ebirs483353045
HLIrs483353045
Exacrs483353045
Varsomers483353045
Maprs483353045
PheGenIrs483353045
hapmaprs483353045
1000 genomesrs483353045
hgdprs483353045
ensemblrs483353045
gopubmedrs483353045
geneviewrs483353045
scholarrs483353045
googlers483353045
pharmgkbrs483353045
gwascentralrs483353045
openSNPrs483353045
23andMers483353045
23andMe allrs483353045
SNP Nexus

SNPshotrs483353045
SNPdbers483353045
MSV3drs483353045
GWAS Ctlgrs483353045
Max Magnitude0
ClinVar
Risk rs483353045(A;A)
Alt rs483353045(A;A)
Reference rs483353045(C;C)
Significance Pathogenic
Disease Congenital myasthenic syndrome 1B
Variation info
Gene C17orf107 CHRNE
CLNDBN Congenital myasthenic syndrome 1B, fast-channel
Reversed 1
HGVS NC_000017.10:g.4805306G>T
CLNSRC ClinVar
CLNACC RCV000122734.3,