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rs201434993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201434993(A;A)
Make rs201434993(A;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position4901082
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs201434993
ebirs201434993
HLIrs201434993
Exacrs201434993
Varsomers201434993
Maprs201434993
PheGenIrs201434993
hapmaprs201434993
1000 genomesrs201434993
hgdprs201434993
ensemblrs201434993
gopubmedrs201434993
geneviewrs201434993
scholarrs201434993
googlers201434993
pharmgkbrs201434993
gwascentralrs201434993
openSNPrs201434993
23andMers201434993
23andMe allrs201434993
SNP Nexus

SNPshotrs201434993
SNPdbers201434993
MSV3drs201434993
GWAS Ctlgrs201434993
Max Magnitude0
ClinVar
Risk rs201434993(A,T;A,T)
Alt rs201434993(A,T;A,T)
Reference rs201434993(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, 4a, slow-channel
Reversed 0
HGVS NC_000017.10:g.4804377C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033235.29,