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rs786204986

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204986(A;A)
Make rs786204986(A;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18584262
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204986
ebirs786204986
HLIrs786204986
Exacrs786204986
Varsomers786204986
Maprs786204986
PheGenIrs786204986
hapmaprs786204986
1000 genomesrs786204986
hgdprs786204986
ensemblrs786204986
gopubmedrs786204986
geneviewrs786204986
scholarrs786204986
googlers786204986
pharmgkbrs786204986
gwascentralrs786204986
openSNPrs786204986
23andMers786204986
23andMe allrs786204986
SNP Nexus

SNPshotrs786204986
SNPdbers786204986
MSV3drs786204986
GWAS Ctlgrs786204986
Max Magnitude0
ClinVar
Risk rs786204986(A;A)
Alt rs786204986(A;A)
Reference rs786204986(G;G)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18602382G>A
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170045.1,