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rs281865362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865362(A;A)
Make rs281865362(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18642053
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs281865362
dbSNP (classic)rs281865362
ClinGenrs281865362
ebirs281865362
HLIrs281865362
Exacrs281865362
Gnomadrs281865362
Varsomers281865362
LitVarrs281865362
Maprs281865362
PheGenIrs281865362
Biobankrs281865362
1000 genomesrs281865362
hgdprs281865362
ensemblrs281865362
geneviewrs281865362
scholarrs281865362
googlers281865362
pharmgkbrs281865362
gwascentralrs281865362
openSNPrs281865362
23andMers281865362
SNPshotrs281865362
SNPdbers281865362
MSV3drs281865362
GWAS Ctlgrs281865362
Max Magnitude0
ClinVar
Risk rs281865362(A;A)
Alt rs281865362(A;A)
Reference Rs281865362(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene CDKL5 RS1
CLNDBN not provided
Reversed 1
HGVS NC_000023.10:g.18660173C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000085349.1,