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rs397514739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514739(-;-)
Make rs397514739(-;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position92955512
GeneCHD2
is asnp
is mentioned by
dbSNPrs397514739
dbSNP (classic)rs397514739
ClinGenrs397514739
ebirs397514739
HLIrs397514739
Exacrs397514739
Gnomadrs397514739
Varsomers397514739
LitVarrs397514739
Maprs397514739
PheGenIrs397514739
Biobankrs397514739
1000 genomesrs397514739
hgdprs397514739
ensemblrs397514739
geneviewrs397514739
scholarrs397514739
googlers397514739
pharmgkbrs397514739
gwascentralrs397514739
openSNPrs397514739
23andMers397514739
SNPshotrs397514739
SNPdbers397514739
MSV3drs397514739
GWAS Ctlgrs397514739
Max Magnitude0
ClinVar
Risk rs397514739(-;-)
Alt rs397514739(-;-)
Reference Rs397514739(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CHD2
CLNDBN Epileptic encephalopathy, childhood-onset
Reversed 0
HGVS NC_000015.9:g.93498742delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000054507.3,