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rs786204982

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786204982(-;AA)
Make rs786204982(AA;AA)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18575483
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204982
dbSNP (old)rs786204982
ClinGenrs786204982
ebirs786204982
HLIrs786204982
Exacrs786204982
Gnomadrs786204982
Varsomers786204982
Maprs786204982
PheGenIrs786204982
Biobankrs786204982
1000 genomesrs786204982
hgdprs786204982
ensemblrs786204982
gopubmedrs786204982
geneviewrs786204982
scholarrs786204982
googlers786204982
pharmgkbrs786204982
gwascentralrs786204982
openSNPrs786204982
23andMers786204982
23andMe allrs786204982
SNP Nexus

SNPshotrs786204982
SNPdbers786204982
MSV3drs786204982
GWAS Ctlgrs786204982
Max Magnitude0
ClinVar
Risk rs786204982(AA;AA)
Alt rs786204982(AA;AA)
Reference Rs786204982(-;-)
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.18593603_18593604insAA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170035.1,