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rs786204992

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204992(-;-)
Make rs786204992(-;A)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18598578
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204992
ebirs786204992
HLIrs786204992
Exacrs786204992
Varsomers786204992
Maprs786204992
PheGenIrs786204992
hapmaprs786204992
1000 genomesrs786204992
hgdprs786204992
ensemblrs786204992
gopubmedrs786204992
geneviewrs786204992
scholarrs786204992
googlers786204992
pharmgkbrs786204992
gwascentralrs786204992
openSNPrs786204992
23andMers786204992
23andMe allrs786204992
SNP Nexus

SNPshotrs786204992
SNPdbers786204992
MSV3drs786204992
GWAS Ctlgrs786204992
Max Magnitude0
ClinVar
Risk rs786204992(;)
Alt rs786204992(;)
Reference rs786204992(A;A)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18616698delA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170056.1,