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rs1057518203

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518203(C;T)
Make rs1057518203(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18603930
GeneCDKL5
is asnp
is mentioned by
dbSNPrs1057518203
dbSNP (classic)rs1057518203
ClinGenrs1057518203
ebirs1057518203
HLIrs1057518203
Exacrs1057518203
Gnomadrs1057518203
Varsomers1057518203
LitVarrs1057518203
Maprs1057518203
PheGenIrs1057518203
Biobankrs1057518203
1000 genomesrs1057518203
hgdprs1057518203
ensemblrs1057518203
geneviewrs1057518203
scholarrs1057518203
googlers1057518203
pharmgkbrs1057518203
gwascentralrs1057518203
openSNPrs1057518203
23andMers1057518203
23andMe allrs1057518203
SNPshotrs1057518203
SNPdbers1057518203
MSV3drs1057518203
GWAS Ctlgrs1057518203
Max Magnitude0
ClinVar
Risk rs1057518203(T;T)
Alt rs1057518203(T;T)
Reference Rs1057518203(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene CDKL5
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.18622050C>T
CLNSRC
CLNACC RCV000413039.1,