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rs587783158

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783158(C;T)
Make rs587783158(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18628470
GeneCDKL5
is asnp
is mentioned by
dbSNPrs587783158
ebirs587783158
HLIrs587783158
Exacrs587783158
Varsomers587783158
Maprs587783158
PheGenIrs587783158
hapmaprs587783158
1000 genomesrs587783158
hgdprs587783158
ensemblrs587783158
gopubmedrs587783158
geneviewrs587783158
scholarrs587783158
googlers587783158
pharmgkbrs587783158
gwascentralrs587783158
openSNPrs587783158
23andMers587783158
23andMe allrs587783158
SNP Nexus

SNPshotrs587783158
SNPdbers587783158
MSV3drs587783158
GWAS Ctlgrs587783158
Max Magnitude0
ClinVar
Risk rs587783158(T;T)
Alt rs587783158(T;T)
Reference rs587783158(C;C)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN not provided Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18646590C>T
CLNSRC
CLNACC RCV000144836.1, RCV000145534.1,