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rs587783131

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783131(A;A)
Make rs587783131(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18510859
GeneCDKL5
is asnp
is mentioned by
dbSNPrs587783131
ebirs587783131
HLIrs587783131
Exacrs587783131
Varsomers587783131
Maprs587783131
PheGenIrs587783131
hapmaprs587783131
1000 genomesrs587783131
hgdprs587783131
ensemblrs587783131
gopubmedrs587783131
geneviewrs587783131
scholarrs587783131
googlers587783131
pharmgkbrs587783131
gwascentralrs587783131
openSNPrs587783131
23andMers587783131
23andMe allrs587783131
SNP Nexus

SNPshotrs587783131
SNPdbers587783131
MSV3drs587783131
GWAS Ctlgrs587783131
Max Magnitude0
ClinVar
Risk rs587783131(A;A)
Alt rs587783131(A;A)
Reference rs587783131(G;G)
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.18528979G>A
CLNSRC RettBASE (CDKL5)
CLNACC RCV000144803.1, RCV000170059.1,