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rs267606714

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606714(A;A)
Make rs267606714(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18598508
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267606714
ebirs267606714
HLIrs267606714
Exacrs267606714
Varsomers267606714
Maprs267606714
PheGenIrs267606714
hapmaprs267606714
1000 genomesrs267606714
hgdprs267606714
ensemblrs267606714
gopubmedrs267606714
geneviewrs267606714
scholarrs267606714
googlers267606714
pharmgkbrs267606714
gwascentralrs267606714
openSNPrs267606714
23andMers267606714
23andMe allrs267606714
SNP Nexus

SNPshotrs267606714
SNPdbers267606714
MSV3drs267606714
GWAS Ctlgrs267606714
Max Magnitude0
ClinVar
Risk rs267606714(A;A)
Alt rs267606714(A;A)
Reference rs267606714(G;G)
Significance Other
Disease Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18616628G>A
CLNSRC OMIM Allelic Variant RettBASE (CDKL5)
CLNACC RCV000012260.22,