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rs267608532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608532(A;C)
Make rs267608532(C;C)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18598491
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608532
ebirs267608532
HLIrs267608532
Exacrs267608532
Varsomers267608532
Maprs267608532
PheGenIrs267608532
hapmaprs267608532
1000 genomesrs267608532
hgdprs267608532
ensemblrs267608532
gopubmedrs267608532
geneviewrs267608532
scholarrs267608532
googlers267608532
pharmgkbrs267608532
gwascentralrs267608532
openSNPrs267608532
23andMers267608532
23andMe allrs267608532
SNP Nexus

SNPshotrs267608532
SNPdbers267608532
MSV3drs267608532
GWAS Ctlgrs267608532
Max Magnitude0
ClinVar
Risk rs267608532(C;C)
Alt rs267608532(C;C)
Reference rs267608532(A;A)
Significance Probable-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.18616611A>C
CLNSRC ClinVar University of Chicago
CLNACC RCV000133386.1, RCV000145547.1,