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rs1057516744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516744(A;A)
Make rs1057516744(A;C)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18644454
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs1057516744
dbSNP (old)rs1057516744
ClinGenrs1057516744
ebirs1057516744
HLIrs1057516744
Exacrs1057516744
Gnomadrs1057516744
Varsomers1057516744
Maprs1057516744
PheGenIrs1057516744
Biobankrs1057516744
1000 genomesrs1057516744
hgdprs1057516744
ensemblrs1057516744
gopubmedrs1057516744
geneviewrs1057516744
scholarrs1057516744
googlers1057516744
pharmgkbrs1057516744
gwascentralrs1057516744
openSNPrs1057516744
23andMers1057516744
23andMe allrs1057516744
SNPshotrs1057516744
SNPdbers1057516744
MSV3drs1057516744
GWAS Ctlgrs1057516744
Max Magnitude0
ClinVar
Risk rs1057516744(A;A)
Alt rs1057516744(A;A)
Reference Rs1057516744(C;C)
Significance Probable-Pathogenic
Disease Juvenile retinoschisis
Variation info
Gene CDKL5 RS1
CLNDBN Juvenile retinoschisis
Reversed 1
HGVS NC_000023.10:g.18662574G>T
CLNSRC
CLNACC RCV000411199.1,