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rs786204983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTAGAATATGC;TTAGAATATGC) 0 common in clinvar
Make rs786204983(-;-)
Make rs786204983(-;TAGAATATGCT)
Make rs786204983(TAGAATATGCT;TAGAATATGCT)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18579845
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204983
dbSNP (old)rs786204983
ClinGenrs786204983
ebirs786204983
HLIrs786204983
Exacrs786204983
Gnomadrs786204983
Varsomers786204983
Maprs786204983
PheGenIrs786204983
Biobankrs786204983
1000 genomesrs786204983
hgdprs786204983
ensemblrs786204983
gopubmedrs786204983
geneviewrs786204983
scholarrs786204983
googlers786204983
pharmgkbrs786204983
gwascentralrs786204983
openSNPrs786204983
23andMers786204983
23andMe allrs786204983
SNP Nexus

SNPshotrs786204983
SNPdbers786204983
MSV3drs786204983
GWAS Ctlgrs786204983
Max Magnitude0
ClinVar
Risk rs786204983(-;-)
Alt rs786204983(-;-)
Reference Rs786204983(TTAGAATATGC;TTAGAATATGC)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18597965_18597975delTAGAATATGCT
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170036.1, RCV000170037.1,