rs1057516744

Orientation

minus

Stabilized

minus

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

Make rs1057516744(A;A)

Make rs1057516744(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

18644454

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs1057516744
dbSNP (classic)	rs1057516744
ClinGen	rs1057516744
ebi	rs1057516744
HLI	rs1057516744
Exac	rs1057516744
Gnomad	rs1057516744
Varsome	rs1057516744
LitVar	rs1057516744
Map	rs1057516744
PheGenI	rs1057516744
Biobank	rs1057516744
1000 genomes	rs1057516744
hgdp	rs1057516744
ensembl	rs1057516744
geneview	rs1057516744
scholar	rs1057516744
google	rs1057516744
pharmgkb	rs1057516744
gwascentral	rs1057516744
openSNP	rs1057516744
23andMe	rs1057516744
SNPshot	rs1057516744
SNPdbe	rs1057516744
MSV3d	rs1057516744
GWAS Ctlg	rs1057516744

Max Magnitude

0

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,