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rs372635387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs372635387(C;T)
Make rs372635387(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4903027
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs372635387
ebirs372635387
HLIrs372635387
Exacrs372635387
Varsomers372635387
Maprs372635387
PheGenIrs372635387
hapmaprs372635387
1000 genomesrs372635387
hgdprs372635387
ensemblrs372635387
gopubmedrs372635387
geneviewrs372635387
scholarrs372635387
googlers372635387
pharmgkbrs372635387
gwascentralrs372635387
openSNPrs372635387
23andMers372635387
23andMe allrs372635387
SNP Nexus

SNPshotrs372635387
SNPdbers372635387
MSV3drs372635387
GWAS Ctlgrs372635387
Max Magnitude0
ClinVar
Risk rs372635387(T;T)
Alt rs372635387(T;T)
Reference rs372635387(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, 4b, fast-channel
Reversed 0
HGVS NC_000017.10:g.4806322C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020027.28,