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rs587783084

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783084(A;A)
Make rs587783084(A;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18584325
GeneCDKL5
is asnp
is mentioned by
dbSNPrs587783084
ebirs587783084
HLIrs587783084
Exacrs587783084
Varsomers587783084
Maprs587783084
PheGenIrs587783084
hapmaprs587783084
1000 genomesrs587783084
hgdprs587783084
ensemblrs587783084
gopubmedrs587783084
geneviewrs587783084
scholarrs587783084
googlers587783084
pharmgkbrs587783084
gwascentralrs587783084
openSNPrs587783084
23andMers587783084
23andMe allrs587783084
SNP Nexus

SNPshotrs587783084
SNPdbers587783084
MSV3drs587783084
GWAS Ctlgrs587783084
Max Magnitude0
ClinVar
Risk rs587783084(A,C,G;A,C,G)
Alt rs587783084(A,C,G;A,C,G)
Reference rs587783084(T;T)
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.18602445T>A; NC_000023.10:g.18602445T>C; NC_000023.10:g.18602445T>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144746.1, RCV000145542.1, RCV000170049.1,