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rs875989950

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs875989950(A;A)
Make rs875989950(A;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position18575381
GeneCDKL5
is asnp
is mentioned by
dbSNPrs875989950
ebirs875989950
HLIrs875989950
Exacrs875989950
Varsomers875989950
Maprs875989950
PheGenIrs875989950
hapmaprs875989950
1000 genomesrs875989950
hgdprs875989950
ensemblrs875989950
gopubmedrs875989950
geneviewrs875989950
scholarrs875989950
googlers875989950
pharmgkbrs875989950
gwascentralrs875989950
openSNPrs875989950
23andMers875989950
23andMe allrs875989950
SNP Nexus

SNPshotrs875989950
SNPdbers875989950
MSV3drs875989950
GWAS Ctlgrs875989950
Max Magnitude0
ClinVar
Risk rs875989950(A;A)
Alt rs875989950(A;A)
Reference rs875989950(T;T)
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.18593501T>A
CLNSRC
CLNACC RCV000211584.1,