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rs267608500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608500(A;G)
Make rs267608500(G;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18587977
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267608500
ebirs267608500
HLIrs267608500
Exacrs267608500
Varsomers267608500
Maprs267608500
PheGenIrs267608500
hapmaprs267608500
1000 genomesrs267608500
hgdprs267608500
ensemblrs267608500
gopubmedrs267608500
geneviewrs267608500
scholarrs267608500
googlers267608500
pharmgkbrs267608500
gwascentralrs267608500
openSNPrs267608500
23andMers267608500
23andMe allrs267608500
SNP Nexus

SNPshotrs267608500
SNPdbers267608500
MSV3drs267608500
GWAS Ctlgrs267608500
Max Magnitude0
ClinVar
Risk rs267608500(G;G)
Alt rs267608500(G;G)
Reference rs267608500(A;A)
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.18606097A>G
CLNSRC RettBASE (CDKL5)
CLNACC RCV000145543.2,