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rs875989880

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs875989880(-;-)
Make rs875989880(-;T)
Make rs875989880(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position18595350
GeneCDKL5
is asnp
is mentioned by
dbSNPrs875989880
ebirs875989880
HLIrs875989880
Exacrs875989880
Varsomers875989880
Maprs875989880
PheGenIrs875989880
hapmaprs875989880
1000 genomesrs875989880
hgdprs875989880
ensemblrs875989880
gopubmedrs875989880
geneviewrs875989880
scholarrs875989880
googlers875989880
pharmgkbrs875989880
gwascentralrs875989880
openSNPrs875989880
23andMers875989880
23andMe allrs875989880
SNP Nexus

SNPshotrs875989880
SNPdbers875989880
MSV3drs875989880
GWAS Ctlgrs875989880
Max Magnitude0
ClinVar
Risk rs875989880(T;T)
Alt rs875989880(T;T)
Reference rs875989880(;)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 2
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2
Reversed 0
HGVS NC_000023.10:g.18613470dupT
CLNSRC University Hospital of Geneva
CLNACC RCV000211460.1,