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rs786204981

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204981(C;T)
Make rs786204981(T;T)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18628578
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204981
ebirs786204981
HLIrs786204981
Exacrs786204981
Varsomers786204981
Maprs786204981
PheGenIrs786204981
hapmaprs786204981
1000 genomesrs786204981
hgdprs786204981
ensemblrs786204981
gopubmedrs786204981
geneviewrs786204981
scholarrs786204981
googlers786204981
pharmgkbrs786204981
gwascentralrs786204981
openSNPrs786204981
23andMers786204981
23andMe allrs786204981
SNP Nexus

SNPshotrs786204981
SNPdbers786204981
MSV3drs786204981
GWAS Ctlgrs786204981
Max Magnitude0
ClinVar
Risk rs786204981(T;T)
Alt rs786204981(T;T)
Reference rs786204981(C;C)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18646698C>T
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170034.1,