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rs786204972

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204972(-;-)
Make rs786204972(-;T)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18604474
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204972
ebirs786204972
HLIrs786204972
Exacrs786204972
Varsomers786204972
Maprs786204972
PheGenIrs786204972
hapmaprs786204972
1000 genomesrs786204972
hgdprs786204972
ensemblrs786204972
gopubmedrs786204972
geneviewrs786204972
scholarrs786204972
googlers786204972
pharmgkbrs786204972
gwascentralrs786204972
openSNPrs786204972
23andMers786204972
23andMe allrs786204972
SNP Nexus

SNPshotrs786204972
SNPdbers786204972
MSV3drs786204972
GWAS Ctlgrs786204972
Max Magnitude0
ClinVar
Risk rs786204972(;)
Alt rs786204972(;)
Reference rs786204972(T;T)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18622594delT
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170001.1,