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rs587783111

From SNPedia

Orientationplus
Geno Mag Summary
(CTTA;CTTA) 0 common in clinvar
Make rs587783111(-;-)
Make rs587783111(-;ACTT)
Make rs587783111(ACTT;ACTT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18584348
GeneCDKL5
is asnp
is mentioned by
dbSNPrs587783111
ebirs587783111
HLIrs587783111
Exacrs587783111
Varsomers587783111
Maprs587783111
PheGenIrs587783111
hapmaprs587783111
1000 genomesrs587783111
hgdprs587783111
ensemblrs587783111
gopubmedrs587783111
geneviewrs587783111
scholarrs587783111
googlers587783111
pharmgkbrs587783111
gwascentralrs587783111
openSNPrs587783111
23andMers587783111
23andMe allrs587783111
SNP Nexus

SNPshotrs587783111
SNPdbers587783111
MSV3drs587783111
GWAS Ctlgrs587783111
Max Magnitude0
ClinVar
Risk rs587783111(;)
Alt rs587783111(;)
Reference rs587783111(CTTA;CTTA)
Significance Pathogenic
Disease not provided
Variation info
Gene CDKL5
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.18602468_18602471delACTT
CLNSRC
CLNACC RCV000144782.1,