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rs864309537

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864309537(C;C)
Make rs864309537(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position92953496
GeneCHD2
is asnp
is mentioned by
dbSNPrs864309537
dbSNP (classic)rs864309537
ClinGenrs864309537
ebirs864309537
HLIrs864309537
Exacrs864309537
Gnomadrs864309537
Varsomers864309537
LitVarrs864309537
Maprs864309537
PheGenIrs864309537
Biobankrs864309537
1000 genomesrs864309537
hgdprs864309537
ensemblrs864309537
geneviewrs864309537
scholarrs864309537
googlers864309537
pharmgkbrs864309537
gwascentralrs864309537
openSNPrs864309537
23andMers864309537
SNPshotrs864309537
SNPdbers864309537
MSV3drs864309537
GWAS Ctlgrs864309537
Max Magnitude0
ClinVar
Risk rs864309537(C;C)
Alt rs864309537(C;C)
Reference Rs864309537(T;T)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CHD2
CLNDBN Epileptic encephalopathy, childhood-onset
Reversed 0
HGVS NC_000015.9:g.93496726T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000202643.1,