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rs587783405

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783405(C;T)
Make rs587783405(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18588021
GeneCDKL5
is asnp
is mentioned by
dbSNPrs587783405
ebirs587783405
HLIrs587783405
Exacrs587783405
Varsomers587783405
Maprs587783405
PheGenIrs587783405
hapmaprs587783405
1000 genomesrs587783405
hgdprs587783405
ensemblrs587783405
gopubmedrs587783405
geneviewrs587783405
scholarrs587783405
googlers587783405
pharmgkbrs587783405
gwascentralrs587783405
openSNPrs587783405
23andMers587783405
23andMe allrs587783405
SNP Nexus

SNPshotrs587783405
SNPdbers587783405
MSV3drs587783405
GWAS Ctlgrs587783405
Max Magnitude0
ClinVar
Risk rs587783405(T;T)
Alt rs587783405(T;T)
Reference rs587783405(C;C)
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.18606141C>T
CLNSRC
CLNACC RCV000145545.1,