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rs397514740

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514740(C;T)
Make rs397514740(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position92927310
GeneCHD2
is asnp
is mentioned by
dbSNPrs397514740
ClinGenrs397514740
ebirs397514740
HLIrs397514740
Exacrs397514740
Varsomers397514740
Maprs397514740
PheGenIrs397514740
hapmaprs397514740
1000 genomesrs397514740
hgdprs397514740
ensemblrs397514740
gopubmedrs397514740
geneviewrs397514740
scholarrs397514740
googlers397514740
pharmgkbrs397514740
gwascentralrs397514740
openSNPrs397514740
23andMers397514740
23andMe allrs397514740
SNP Nexus

SNPshotrs397514740
SNPdbers397514740
MSV3drs397514740
GWAS Ctlgrs397514740
Max Magnitude0
ClinVar
Risk rs397514740(T;T)
Alt rs397514740(T;T)
Reference Rs397514740(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CHD2
CLNDBN Epileptic encephalopathy, childhood-onset
Reversed 0
HGVS NC_000015.9:g.93470540C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054509.4,