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rs61753174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61753174(C;T)
Make rs61753174(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18642105
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs61753174
dbSNP (classic)rs61753174
ClinGenrs61753174
ebirs61753174
HLIrs61753174
Exacrs61753174
Gnomadrs61753174
Varsomers61753174
LitVarrs61753174
Maprs61753174
PheGenIrs61753174
Biobankrs61753174
1000 genomesrs61753174
hgdprs61753174
ensemblrs61753174
geneviewrs61753174
scholarrs61753174
googlers61753174
pharmgkbrs61753174
gwascentralrs61753174
openSNPrs61753174
23andMers61753174
SNPshotrs61753174
SNPdbers61753174
MSV3drs61753174
GWAS Ctlgrs61753174
Max Magnitude0
ClinVar
Risk rs61753174(A;A) rs61753174(T;T)
Alt rs61753174(A;A) rs61753174(T;T)
Reference Rs61753174(C;C)
Significance Probable-Pathogenic
Disease not provided Juvenile retinoschisis
Variation info
Gene CDKL5 RS1
CLNDBN not provided Juvenile retinoschisis
Reversed 1
HGVS NC_000023.10:g.18660225G>A; NC_000023.10:g.18660225G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000085331.1, RCV000169568.1, RCV000085330.1,