rs1057517433

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs1057517433(C;C)

Make rs1057517433(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

18642006

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs1057517433
dbSNP (classic)	rs1057517433
ClinGen	rs1057517433
ebi	rs1057517433
HLI	rs1057517433
Exac	rs1057517433
Gnomad	rs1057517433
Varsome	rs1057517433
LitVar	rs1057517433
Map	rs1057517433
PheGenI	rs1057517433
Biobank	rs1057517433
1000 genomes	rs1057517433
hgdp	rs1057517433
ensembl	rs1057517433
geneview	rs1057517433
scholar	rs1057517433
google	rs1057517433
pharmgkb	rs1057517433
gwascentral	rs1057517433
openSNP	rs1057517433
23andMe	rs1057517433
SNPshot	rs1057517433
SNPdbe	rs1057517433
MSV3d	rs1057517433
GWAS Ctlg	rs1057517433

Max Magnitude

0

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,