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rs864309536

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309536(A;A)
Make rs864309536(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position92949077
GeneCHD2
is asnp
is mentioned by
dbSNPrs864309536
dbSNP (classic)rs864309536
ClinGenrs864309536
ebirs864309536
HLIrs864309536
Exacrs864309536
Gnomadrs864309536
Varsomers864309536
LitVarrs864309536
Maprs864309536
PheGenIrs864309536
Biobankrs864309536
1000 genomesrs864309536
hgdprs864309536
ensemblrs864309536
geneviewrs864309536
scholarrs864309536
googlers864309536
pharmgkbrs864309536
gwascentralrs864309536
openSNPrs864309536
23andMers864309536
SNPshotrs864309536
SNPdbers864309536
MSV3drs864309536
GWAS Ctlgrs864309536
Max Magnitude0
ClinVar
Risk rs864309536(A;A)
Alt rs864309536(A;A)
Reference Rs864309536(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CHD2
CLNDBN Epileptic encephalopathy, childhood-onset
Reversed 0
HGVS NC_000015.9:g.93492307G>A
CLNSRC
CLNACC RCV000202636.1,