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rs398123000

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123000(C;T)
Make rs398123000(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position92948970
GeneCHD2
is asnp
is mentioned by
dbSNPrs398123000
ebirs398123000
HLIrs398123000
Exacrs398123000
Varsomers398123000
Maprs398123000
PheGenIrs398123000
hapmaprs398123000
1000 genomesrs398123000
hgdprs398123000
ensemblrs398123000
gopubmedrs398123000
geneviewrs398123000
scholarrs398123000
googlers398123000
pharmgkbrs398123000
gwascentralrs398123000
openSNPrs398123000
23andMers398123000
23andMe allrs398123000
SNP Nexus

SNPshotrs398123000
SNPdbers398123000
MSV3drs398123000
GWAS Ctlgrs398123000
Max Magnitude0
ClinVar
Risk rs398123000(T;T)
Alt rs398123000(T;T)
Reference rs398123000(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CHD2
CLNDBN Epileptic encephalopathy, childhood-onset
Reversed 0
HGVS NC_000015.9:g.93492200C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000077773.4,