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rs1057517816

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517816(A;A)
Make rs1057517816(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18642011
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs1057517816
dbSNP (classic)rs1057517816
ClinGenrs1057517816
ebirs1057517816
HLIrs1057517816
Exacrs1057517816
Gnomadrs1057517816
Varsomers1057517816
LitVarrs1057517816
Maprs1057517816
PheGenIrs1057517816
Biobankrs1057517816
1000 genomesrs1057517816
hgdprs1057517816
ensemblrs1057517816
geneviewrs1057517816
scholarrs1057517816
googlers1057517816
pharmgkbrs1057517816
gwascentralrs1057517816
openSNPrs1057517816
23andMers1057517816
23andMe allrs1057517816
SNPshotrs1057517816
SNPdbers1057517816
MSV3drs1057517816
GWAS Ctlgrs1057517816
Max Magnitude0
ClinVar
Risk rs1057517816(A;A)
Alt rs1057517816(A;A)
Reference Rs1057517816(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene CDKL5 RS1
CLNDBN not provided
Reversed 1
HGVS NC_000023.10:g.18660131C>T
CLNSRC
CLNACC RCV000413709.1,