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rs587783399

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783399(A;A)
Make rs587783399(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18575353
GeneCDKL5
is asnp
is mentioned by
dbSNPrs587783399
ebirs587783399
HLIrs587783399
Exacrs587783399
Varsomers587783399
Maprs587783399
PheGenIrs587783399
hapmaprs587783399
1000 genomesrs587783399
hgdprs587783399
ensemblrs587783399
gopubmedrs587783399
geneviewrs587783399
scholarrs587783399
googlers587783399
pharmgkbrs587783399
gwascentralrs587783399
openSNPrs587783399
23andMers587783399
23andMe allrs587783399
SNP Nexus

SNPshotrs587783399
SNPdbers587783399
MSV3drs587783399
GWAS Ctlgrs587783399
Max Magnitude0
ClinVar
Risk rs587783399(A;A)
Alt rs587783399(A;A)
Reference rs587783399(G;G)
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.18593473G>A
CLNSRC
CLNACC RCV000145520.1,