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rs267606715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606715(C;C)
Make rs267606715(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18584332
GeneCDKL5
is asnp
is mentioned by
dbSNPrs267606715
ebirs267606715
HLIrs267606715
Exacrs267606715
Varsomers267606715
Maprs267606715
PheGenIrs267606715
hapmaprs267606715
1000 genomesrs267606715
hgdprs267606715
ensemblrs267606715
gopubmedrs267606715
geneviewrs267606715
scholarrs267606715
googlers267606715
pharmgkbrs267606715
gwascentralrs267606715
openSNPrs267606715
23andMers267606715
23andMe allrs267606715
SNP Nexus

SNPshotrs267606715
SNPdbers267606715
MSV3drs267606715
GWAS Ctlgrs267606715
Max Magnitude0
ClinVar
Risk rs267606715(A,C;A,C)
Alt rs267606715(A,C;A,C)
Reference rs267606715(G;G)
Significance Other
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.18602452G>A; NC_000023.10:g.18602452G>C
CLNSRC HGMD RettBASE (CDKL5) OMIM Allelic Variant
CLNACC RCV000080074.8, RCV000169920.2, RCV000012262.11,