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rs786204969

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204969(C;T)
Make rs786204969(T;T)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18604299
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204969
ebirs786204969
HLIrs786204969
Exacrs786204969
Varsomers786204969
Maprs786204969
PheGenIrs786204969
hapmaprs786204969
1000 genomesrs786204969
hgdprs786204969
ensemblrs786204969
gopubmedrs786204969
geneviewrs786204969
scholarrs786204969
googlers786204969
pharmgkbrs786204969
gwascentralrs786204969
openSNPrs786204969
23andMers786204969
23andMe allrs786204969
SNP Nexus

SNPshotrs786204969
SNPdbers786204969
MSV3drs786204969
GWAS Ctlgrs786204969
Max Magnitude0
ClinVar
Risk rs786204969(T;T)
Alt rs786204969(T;T)
Reference rs786204969(C;C)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18622419C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000169996.1,