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rs1057519541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519541(C;T)
Make rs1057519541(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18628515
GeneCDKL5
is asnp
is mentioned by
dbSNPrs1057519541
dbSNP (old)rs1057519541
ClinGenrs1057519541
ebirs1057519541
HLIrs1057519541
Exacrs1057519541
Gnomadrs1057519541
Varsomers1057519541
Maprs1057519541
PheGenIrs1057519541
Biobankrs1057519541
1000 genomesrs1057519541
hgdprs1057519541
ensemblrs1057519541
gopubmedrs1057519541
geneviewrs1057519541
scholarrs1057519541
googlers1057519541
pharmgkbrs1057519541
gwascentralrs1057519541
openSNPrs1057519541
23andMers1057519541
23andMe allrs1057519541
SNPshotrs1057519541
SNPdbers1057519541
MSV3drs1057519541
GWAS Ctlgrs1057519541
Max Magnitude0
ClinVar
Risk rs1057519541(T;T)
Alt rs1057519541(T;T)
Reference Rs1057519541(C;C)
Significance Pathogenic
Disease Focal epilepsy
Variation info
Gene CDKL5
CLNDBN Focal epilepsy
Reversed 0
HGVS NC_000023.10:g.18646635C>T
CLNSRC
CLNACC RCV000416943.1,