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rs398122999

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122999(A;C)
Make rs398122999(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position92956457
GeneCHD2
is asnp
is mentioned by
dbSNPrs398122999
ebirs398122999
HLIrs398122999
Exacrs398122999
Varsomers398122999
Maprs398122999
PheGenIrs398122999
hapmaprs398122999
1000 genomesrs398122999
hgdprs398122999
ensemblrs398122999
gopubmedrs398122999
geneviewrs398122999
scholarrs398122999
googlers398122999
pharmgkbrs398122999
gwascentralrs398122999
openSNPrs398122999
23andMers398122999
23andMe allrs398122999
SNP Nexus

SNPshotrs398122999
SNPdbers398122999
MSV3drs398122999
GWAS Ctlgrs398122999
Max Magnitude0
ClinVar
Risk rs398122999(C;C)
Alt rs398122999(C;C)
Reference rs398122999(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CHD2
CLNDBN Epileptic encephalopathy, childhood-onset
Reversed 0
HGVS NC_000015.9:g.93499687A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000077772.2,