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rs1057517433

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517433(C;C)
Make rs1057517433(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position18642006
GeneCDKL5, RS1
is asnp
is mentioned by
dbSNPrs1057517433
dbSNP (old)rs1057517433
ClinGenrs1057517433
ebirs1057517433
HLIrs1057517433
Exacrs1057517433
Gnomadrs1057517433
Varsomers1057517433
Maprs1057517433
PheGenIrs1057517433
Biobankrs1057517433
1000 genomesrs1057517433
hgdprs1057517433
ensemblrs1057517433
gopubmedrs1057517433
geneviewrs1057517433
scholarrs1057517433
googlers1057517433
pharmgkbrs1057517433
gwascentralrs1057517433
openSNPrs1057517433
23andMers1057517433
23andMe allrs1057517433
SNPshotrs1057517433
SNPdbers1057517433
MSV3drs1057517433
GWAS Ctlgrs1057517433
Max Magnitude0
ClinVar
Risk rs1057517433(C;C)
Alt rs1057517433(C;C)
Reference Rs1057517433(T;T)
Significance Probable-Pathogenic
Disease Juvenile retinoschisis
Variation info
Gene CDKL5 RS1
CLNDBN Juvenile retinoschisis
Reversed 1
HGVS NC_000023.10:g.18660126A>G
CLNSRC
CLNACC RCV000409978.1,