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rs864309538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs864309538(-;-)
Make rs864309538(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position92955511
GeneCHD2
is asnp
is mentioned by
dbSNPrs864309538
dbSNP (classic)rs864309538
ClinGenrs864309538
ebirs864309538
HLIrs864309538
Exacrs864309538
Gnomadrs864309538
Varsomers864309538
LitVarrs864309538
Maprs864309538
PheGenIrs864309538
Biobankrs864309538
1000 genomesrs864309538
hgdprs864309538
ensemblrs864309538
geneviewrs864309538
scholarrs864309538
googlers864309538
pharmgkbrs864309538
gwascentralrs864309538
openSNPrs864309538
23andMers864309538
SNPshotrs864309538
SNPdbers864309538
MSV3drs864309538
GWAS Ctlgrs864309538
Max Magnitude0
ClinVar
Risk rs864309538(-;-)
Alt rs864309538(-;-)
Reference Rs864309538(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CHD2
CLNDBN Epileptic encephalopathy, childhood-onset
Reversed 0
HGVS NC_000015.9:g.93498741delA
CLNSRC
CLNACC RCV000202628.1,