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rs587783401

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587783401(-;-)
Make rs587783401(-;C)
Make rs587783401(C;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18604721
GeneCDKL5
is asnp
is mentioned by
dbSNPrs587783401
ebirs587783401
HLIrs587783401
Exacrs587783401
Varsomers587783401
Maprs587783401
PheGenIrs587783401
hapmaprs587783401
1000 genomesrs587783401
hgdprs587783401
ensemblrs587783401
gopubmedrs587783401
geneviewrs587783401
scholarrs587783401
googlers587783401
pharmgkbrs587783401
gwascentralrs587783401
openSNPrs587783401
23andMers587783401
23andMe allrs587783401
SNP Nexus

SNPshotrs587783401
SNPdbers587783401
MSV3drs587783401
GWAS Ctlgrs587783401
Max Magnitude0
ClinVar
Risk rs587783401(C;C)
Alt rs587783401(C;C)
Reference rs587783401(;)
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.18622841dupC
CLNSRC
CLNACC RCV000145524.1,