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rs786204984

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204984(A;A)
Make rs786204984(A;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18579969
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204984
ebirs786204984
HLIrs786204984
Exacrs786204984
Varsomers786204984
Maprs786204984
PheGenIrs786204984
hapmaprs786204984
1000 genomesrs786204984
hgdprs786204984
ensemblrs786204984
gopubmedrs786204984
geneviewrs786204984
scholarrs786204984
googlers786204984
pharmgkbrs786204984
gwascentralrs786204984
openSNPrs786204984
23andMers786204984
23andMe allrs786204984
SNP Nexus

SNPshotrs786204984
SNPdbers786204984
MSV3drs786204984
GWAS Ctlgrs786204984
Max Magnitude0
ClinVar
Risk rs786204984(A;A)
Alt rs786204984(A;A)
Reference rs786204984(G;G)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18598089G>A
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170038.1,