Have questions? Visit https://www.reddit.com/r/SNPedia

rs864309543

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
(AGAA;AGAA) 0 common in clinvar
Make rs864309543(-;-)
Make rs864309543(-;AGAA)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position93002272
GeneCHD2
is asnp
is mentioned by
dbSNPrs864309543
dbSNP (old)rs864309543
ClinGenrs864309543
ebirs864309543
HLIrs864309543
Exacrs864309543
Gnomadrs864309543
Varsomers864309543
Maprs864309543
PheGenIrs864309543
Biobankrs864309543
1000 genomesrs864309543
hgdprs864309543
ensemblrs864309543
gopubmedrs864309543
geneviewrs864309543
scholarrs864309543
googlers864309543
pharmgkbrs864309543
gwascentralrs864309543
openSNPrs864309543
23andMers864309543
23andMe allrs864309543
SNP Nexus

SNPshotrs864309543
SNPdbers864309543
MSV3drs864309543
GWAS Ctlgrs864309543
Max Magnitude0
ClinVar
Risk rs864309543(-;-) Rs864309543(AAAG;AAAG)
Alt rs864309543(-;-) Rs864309543(AAAG;AAAG)
Reference Rs864309543(AGAA;AGAA)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CHD2
CLNDBN Epileptic encephalopathy, childhood-onset
Reversed 0
HGVS NC_000015.9:g.93545502_93545505delAGAA
CLNSRC
CLNACC RCV000202630.1,