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rs587783145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783145(C;G)
Make rs587783145(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position18604594
GeneCDKL5
is asnp
is mentioned by
dbSNPrs587783145
dbSNP (classic)rs587783145
ClinGenrs587783145
ebirs587783145
HLIrs587783145
Exacrs587783145
Gnomadrs587783145
Varsomers587783145
LitVarrs587783145
Maprs587783145
PheGenIrs587783145
Biobankrs587783145
1000 genomesrs587783145
hgdprs587783145
ensemblrs587783145
geneviewrs587783145
scholarrs587783145
googlers587783145
pharmgkbrs587783145
gwascentralrs587783145
openSNPrs587783145
23andMers587783145
SNPshotrs587783145
SNPdbers587783145
MSV3drs587783145
GWAS Ctlgrs587783145
Max Magnitude0
ClinVar
Risk rs587783145(G;G)
Alt rs587783145(G;G)
Reference Rs587783145(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene CDKL5
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.18622714C>G
CLNSRC
CLNACC RCV000144819.1,