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rs267608537

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs267608537(-;-)
Make rs267608537(-;A)
Make rs267608537(A;A)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18598503
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608537
ebirs267608537
HLIrs267608537
Exacrs267608537
Varsomers267608537
Maprs267608537
PheGenIrs267608537
hapmaprs267608537
1000 genomesrs267608537
hgdprs267608537
ensemblrs267608537
gopubmedrs267608537
geneviewrs267608537
scholarrs267608537
googlers267608537
pharmgkbrs267608537
gwascentralrs267608537
openSNPrs267608537
23andMers267608537
23andMe allrs267608537
SNP Nexus

SNPshotrs267608537
SNPdbers267608537
MSV3drs267608537
GWAS Ctlgrs267608537
Max Magnitude0
ClinVar
Risk rs267608537(A;A)
Alt rs267608537(A;A)
Reference rs267608537(;)
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.18616623dupA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133388.2,