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rs587783398

From SNPedia

Orientationplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs587783398(-;-)
Make rs587783398(-;GA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18604269
GeneCDKL5
is asnp
is mentioned by
dbSNPrs587783398
ebirs587783398
HLIrs587783398
Exacrs587783398
Varsomers587783398
Maprs587783398
PheGenIrs587783398
hapmaprs587783398
1000 genomesrs587783398
hgdprs587783398
ensemblrs587783398
gopubmedrs587783398
geneviewrs587783398
scholarrs587783398
googlers587783398
pharmgkbrs587783398
gwascentralrs587783398
openSNPrs587783398
23andMers587783398
23andMe allrs587783398
SNP Nexus

SNPshotrs587783398
SNPdbers587783398
MSV3drs587783398
GWAS Ctlgrs587783398
Max Magnitude0
ClinVar
Risk rs587783398(;)
Alt rs587783398(;)
Reference rs587783398(GA;GA)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18622389_18622390delGA
CLNSRC
CLNACC RCV000145517.1,