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rs122460159

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122460159(C;T)
Make rs122460159(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position18564496
GeneCDKL5
is asnp
is mentioned by
dbSNPrs122460159
ebirs122460159
HLIrs122460159
Exacrs122460159
Varsomers122460159
Maprs122460159
PheGenIrs122460159
hapmaprs122460159
1000 genomesrs122460159
hgdprs122460159
ensemblrs122460159
gopubmedrs122460159
geneviewrs122460159
scholarrs122460159
googlers122460159
pharmgkbrs122460159
gwascentralrs122460159
openSNPrs122460159
23andMers122460159
23andMe allrs122460159
SNP Nexus

SNPshotrs122460159
SNPdbers122460159
MSV3drs122460159
GWAS Ctlgrs122460159
Max Magnitude0
OMIM300203
Desc
Variant0009
Relatedalso
ClinVar
Risk rs122460159(T;T)
Alt rs122460159(T;T)
Reference rs122460159(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.18582616C>T
CLNSRC OMIM Allelic Variant RettBASE (CDKL5)
CLNACC RCV000012257.11, RCV000133317.2,