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rs786204976

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204976(A;A)
Make rs786204976(A;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18608913
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204976
ebirs786204976
HLIrs786204976
Exacrs786204976
Varsomers786204976
Maprs786204976
PheGenIrs786204976
hapmaprs786204976
1000 genomesrs786204976
hgdprs786204976
ensemblrs786204976
gopubmedrs786204976
geneviewrs786204976
scholarrs786204976
googlers786204976
pharmgkbrs786204976
gwascentralrs786204976
openSNPrs786204976
23andMers786204976
23andMe allrs786204976
SNP Nexus

SNPshotrs786204976
SNPdbers786204976
MSV3drs786204976
GWAS Ctlgrs786204976
Max Magnitude0
ClinVar
Risk rs786204976(A;A)
Alt rs786204976(A;A)
Reference rs786204976(G;G)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18627033G>A
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170015.1,