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rs786204989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204989(G;T)
Make rs786204989(T;T)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18584327
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204989
dbSNP (old)rs786204989
ClinGenrs786204989
ebirs786204989
HLIrs786204989
Exacrs786204989
Gnomadrs786204989
Varsomers786204989
Maprs786204989
PheGenIrs786204989
Biobankrs786204989
1000 genomesrs786204989
hgdprs786204989
ensemblrs786204989
gopubmedrs786204989
geneviewrs786204989
scholarrs786204989
googlers786204989
pharmgkbrs786204989
gwascentralrs786204989
openSNPrs786204989
23andMers786204989
23andMe allrs786204989
SNP Nexus

SNPshotrs786204989
SNPdbers786204989
MSV3drs786204989
GWAS Ctlgrs786204989
Max Magnitude0
ClinVar
Risk rs786204989(T;T)
Alt rs786204989(T;T)
Reference Rs786204989(G;G)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18602447G>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170050.1,