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rs869312705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312705(-;-)
Make rs869312705(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position92953405
GeneCHD2
is asnp
is mentioned by
dbSNPrs869312705
dbSNP (classic)rs869312705
ClinGenrs869312705
ebirs869312705
HLIrs869312705
Exacrs869312705
Gnomadrs869312705
Varsomers869312705
LitVarrs869312705
Maprs869312705
PheGenIrs869312705
Biobankrs869312705
1000 genomesrs869312705
hgdprs869312705
ensemblrs869312705
geneviewrs869312705
scholarrs869312705
googlers869312705
pharmgkbrs869312705
gwascentralrs869312705
openSNPrs869312705
23andMers869312705
SNPshotrs869312705
SNPdbers869312705
MSV3drs869312705
GWAS Ctlgrs869312705
Max Magnitude0
ClinVar
Risk rs869312705(-;-)
Alt rs869312705(-;-)
Reference Rs869312705(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CHD2
CLNDBN Epileptic encephalopathy, childhood-onset
Reversed 0
HGVS NC_000015.9:g.93496635delC
CLNSRC
CLNACC RCV000209896.1,