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rs17857094

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs17857094(C;T)
Make rs17857094(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18625245
GeneCDKL5
is asnp
is mentioned by
dbSNPrs17857094
ebirs17857094
HLIrs17857094
Exacrs17857094
Varsomers17857094
Maprs17857094
PheGenIrs17857094
hapmaprs17857094
1000 genomesrs17857094
hgdprs17857094
ensemblrs17857094
gopubmedrs17857094
geneviewrs17857094
scholarrs17857094
googlers17857094
pharmgkbrs17857094
gwascentralrs17857094
openSNPrs17857094
23andMers17857094
23andMe allrs17857094
SNP Nexus

SNPshotrs17857094
SNPdbers17857094
MSV3drs17857094
GWAS Ctlgrs17857094
Max Magnitude0
ClinVar
Risk rs17857094(T;T)
Alt rs17857094(T;T)
Reference rs17857094(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18643365C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170023.1,