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rs786204963

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204963(A;C)
Make rs786204963(C;C)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18588055
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204963
ebirs786204963
HLIrs786204963
Exacrs786204963
Varsomers786204963
Maprs786204963
PheGenIrs786204963
hapmaprs786204963
1000 genomesrs786204963
hgdprs786204963
ensemblrs786204963
gopubmedrs786204963
geneviewrs786204963
scholarrs786204963
googlers786204963
pharmgkbrs786204963
gwascentralrs786204963
openSNPrs786204963
23andMers786204963
23andMe allrs786204963
SNP Nexus

SNPshotrs786204963
SNPdbers786204963
MSV3drs786204963
GWAS Ctlgrs786204963
Max Magnitude0
ClinVar
Risk rs786204963(C;C)
Alt rs786204963(C;C)
Reference rs786204963(A;A)
Significance Probable-Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18606175A>C
CLNSRC RettBASE (CDKL5)
CLNACC RCV000169988.1,