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rs786204966

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204966(G;T)
Make rs786204966(T;T)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18604014
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204966
ebirs786204966
HLIrs786204966
Exacrs786204966
Varsomers786204966
Maprs786204966
PheGenIrs786204966
hapmaprs786204966
1000 genomesrs786204966
hgdprs786204966
ensemblrs786204966
gopubmedrs786204966
geneviewrs786204966
scholarrs786204966
googlers786204966
pharmgkbrs786204966
gwascentralrs786204966
openSNPrs786204966
23andMers786204966
23andMe allrs786204966
SNP Nexus

SNPshotrs786204966
SNPdbers786204966
MSV3drs786204966
GWAS Ctlgrs786204966
Max Magnitude0
ClinVar
Risk rs786204966(T;T)
Alt rs786204966(T;T)
Reference rs786204966(G;G)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18622134G>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000169993.1,