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rs122460157

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122460157(G;T)
Make rs122460157(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18581942
GeneCDKL5
is asnp
is mentioned by
dbSNPrs122460157
ebirs122460157
HLIrs122460157
Exacrs122460157
Varsomers122460157
Maprs122460157
PheGenIrs122460157
hapmaprs122460157
1000 genomesrs122460157
hgdprs122460157
ensemblrs122460157
gopubmedrs122460157
geneviewrs122460157
scholarrs122460157
googlers122460157
pharmgkbrs122460157
gwascentralrs122460157
openSNPrs122460157
23andMers122460157
23andMe allrs122460157
SNP Nexus

SNPshotrs122460157
SNPdbers122460157
MSV3drs122460157
GWAS Ctlgrs122460157
Max Magnitude0
OMIM300203
Desc
Variant0003
Relatedalso
ClinVar
Risk rs122460157(T;T)
Alt rs122460157(T;T)
Reference rs122460157(G;G)
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.18600062G>T
CLNSRC OMIM Allelic Variant RettBASE (CDKL5)
CLNACC RCV000012251.21, RCV000133370.2,