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rs122460158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122460158(C;T)
Make rs122460158(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18628374
GeneCDKL5
is asnp
is mentioned by
dbSNPrs122460158
ebirs122460158
HLIrs122460158
Exacrs122460158
Varsomers122460158
Maprs122460158
PheGenIrs122460158
hapmaprs122460158
1000 genomesrs122460158
hgdprs122460158
ensemblrs122460158
gopubmedrs122460158
geneviewrs122460158
scholarrs122460158
googlers122460158
pharmgkbrs122460158
gwascentralrs122460158
openSNPrs122460158
23andMers122460158
23andMe allrs122460158
SNP Nexus

SNPshotrs122460158
SNPdbers122460158
MSV3drs122460158
GWAS Ctlgrs122460158
Max Magnitude0
OMIM300203
Desc
Variant0007
Relatedalso
ClinVar
Risk rs122460158(T;T)
Alt rs122460158(T;T)
Reference rs122460158(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18646494C>T
CLNSRC OMIM Allelic Variant RettBASE (CDKL5)
CLNACC RCV000012255.23, RCV000133352.2,