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rs61752159

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61752159(A;A)
Make rs61752159(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18644530
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs61752159
dbSNP (classic)rs61752159
ClinGenrs61752159
ebirs61752159
HLIrs61752159
Exacrs61752159
Gnomadrs61752159
Varsomers61752159
LitVarrs61752159
Maprs61752159
PheGenIrs61752159
Biobankrs61752159
1000 genomesrs61752159
hgdprs61752159
ensemblrs61752159
geneviewrs61752159
scholarrs61752159
googlers61752159
pharmgkbrs61752159
gwascentralrs61752159
openSNPrs61752159
23andMers61752159
SNPshotrs61752159
SNPdbers61752159
MSV3drs61752159
GWAS Ctlgrs61752159
Max Magnitude0
ClinVar
Risk rs61752159(A;A)
Alt rs61752159(A;A)
Reference Rs61752159(G;G)
Significance Pathogenic
Disease not provided Juvenile retinoschisis
Variation info
Gene CDKL5 RS1
CLNDBN not provided Juvenile retinoschisis
Reversed 1
HGVS NC_000023.10:g.18662650C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000085301.1, RCV000411096.1,