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rs786204990

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204990(-;-)
Make rs786204990(-;TTTTA)
Make rs786204990(TTTTA;TTTTA)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position18588063
GeneCDKL5
is asnp
is mentioned by
dbSNPrs786204990
ebirs786204990
HLIrs786204990
Exacrs786204990
Varsomers786204990
Maprs786204990
PheGenIrs786204990
hapmaprs786204990
1000 genomesrs786204990
hgdprs786204990
ensemblrs786204990
gopubmedrs786204990
geneviewrs786204990
scholarrs786204990
googlers786204990
pharmgkbrs786204990
gwascentralrs786204990
openSNPrs786204990
23andMers786204990
23andMe allrs786204990
SNP Nexus

SNPshotrs786204990
SNPdbers786204990
MSV3drs786204990
GWAS Ctlgrs786204990
Max Magnitude0
ClinVar
Risk rs786204990(TTTTA;TTTTA)
Alt rs786204990(TTTTA;TTTTA)
Reference rs786204990(;)
Significance Pathogenic
Disease Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18606179_18606183dupTTTTA
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170053.1,