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rs28999110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28999110(C;T)
Make rs28999110(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position4901071
GeneCHRNE, C17orf107
is asnp
is mentioned by
dbSNPrs28999110
ebirs28999110
HLIrs28999110
Exacrs28999110
Varsomers28999110
Maprs28999110
PheGenIrs28999110
hapmaprs28999110
1000 genomesrs28999110
hgdprs28999110
ensemblrs28999110
gopubmedrs28999110
geneviewrs28999110
scholarrs28999110
googlers28999110
pharmgkbrs28999110
gwascentralrs28999110
openSNPrs28999110
23andMers28999110
23andMe allrs28999110
SNP Nexus

SNPshotrs28999110
SNPdbers28999110
MSV3drs28999110
GWAS Ctlgrs28999110
Max Magnitude0
OMIM100725
DescMYASTHENIC SYNDROME, SLOW-CHANNEL CONGENITAL
Variant0010
Relatedalso


ClinVar
Risk rs28999110(T;T)
Alt rs28999110(T;T)
Reference rs28999110(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene C17orf107 CHRNE
CLNDBN Myasthenic syndrome, congenital, 4a, slow-channel
Reversed 1
HGVS NC_000017.10:g.4804366G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020020.28,