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rs786204968

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204968(-;-)
Make rs786204968(-;C)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18604265
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204968
ebirs786204968
HLIrs786204968
Exacrs786204968
Varsomers786204968
Maprs786204968
PheGenIrs786204968
hapmaprs786204968
1000 genomesrs786204968
hgdprs786204968
ensemblrs786204968
gopubmedrs786204968
geneviewrs786204968
scholarrs786204968
googlers786204968
pharmgkbrs786204968
gwascentralrs786204968
openSNPrs786204968
23andMers786204968
23andMe allrs786204968
SNP Nexus

SNPshotrs786204968
SNPdbers786204968
MSV3drs786204968
GWAS Ctlgrs786204968
Max Magnitude0
ClinVar
Risk rs786204968(;)
Alt rs786204968(;)
Reference rs786204968(C;C)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18622385delC
CLNSRC RettBASE (CDKL5)
CLNACC RCV000169995.1,