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rs61753251

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
(I;I) 0
Make rs61753251(-;-)
Make rs61753251(-;CT)
ReferenceGRCh38 38.1/142
ChromosomeX
Position18628509
GeneCDKL5
is asnp
is mentioned by
dbSNPrs61753251
ebirs61753251
HLIrs61753251
Exacrs61753251
Varsomers61753251
Maprs61753251
PheGenIrs61753251
hapmaprs61753251
1000 genomesrs61753251
hgdprs61753251
ensemblrs61753251
gopubmedrs61753251
geneviewrs61753251
scholarrs61753251
googlers61753251
pharmgkbrs61753251
gwascentralrs61753251
openSNPrs61753251
23andMers61753251
23andMe allrs61753251
SNP Nexus

SNPshotrs61753251
SNPdbers61753251
MSV3drs61753251
GWAS Ctlgrs61753251
Max Magnitude0


ClinVar
Risk rs61753251(;)
Alt rs61753251(;)
Reference rs61753251(CT;CT)
Significance Pathogenic
Disease not provided Early infantile epileptic encephalopathy 2 Atypical Rett syndrome Angelman syndrome-like
Variation info
Gene CDKL5
CLNDBN not provided Early infantile epileptic encephalopathy 2 Atypical Rett syndrome Angelman syndrome-like
Reversed 0
HGVS NC_000023.10:g.18646629_18646630delCT
CLNSRC RettBASE (CDKL5)
CLNACC RCV000133357.3, RCV000145535.2, RCV000169918.1, RCV000229531.1,