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rs864309547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309547(C;T)
Make rs864309547(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position93020014
GeneCHD2
is asnp
is mentioned by
dbSNPrs864309547
dbSNP (classic)rs864309547
ClinGenrs864309547
ebirs864309547
HLIrs864309547
Exacrs864309547
Gnomadrs864309547
Varsomers864309547
LitVarrs864309547
Maprs864309547
PheGenIrs864309547
Biobankrs864309547
1000 genomesrs864309547
hgdprs864309547
ensemblrs864309547
geneviewrs864309547
scholarrs864309547
googlers864309547
pharmgkbrs864309547
gwascentralrs864309547
openSNPrs864309547
23andMers864309547
SNPshotrs864309547
SNPdbers864309547
MSV3drs864309547
GWAS Ctlgrs864309547
Max Magnitude0
ClinVar
Risk rs864309547(T;T)
Alt rs864309547(T;T)
Reference Rs864309547(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy not provided
Variation info
Gene CHD2
CLNDBN Epileptic encephalopathy, childhood-onset not provided
Reversed 0
HGVS NC_000015.9:g.93563244C>T
CLNSRC
CLNACC RCV000202631.1, RCV000479724.1,