rs281865355

Orientation

minus

Stabilized

minus

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

Make rs281865355(C;C)

Make rs281865355(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

18642089

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs281865355
dbSNP (classic)	rs281865355
ClinGen	rs281865355
ebi	rs281865355
HLI	rs281865355
Exac	rs281865355
Gnomad	rs281865355
Varsome	rs281865355
LitVar	rs281865355
Map	rs281865355
PheGenI	rs281865355
Biobank	rs281865355
1000 genomes	rs281865355
hgdp	rs281865355
ensembl	rs281865355
geneview	rs281865355
scholar	rs281865355
google	rs281865355
pharmgkb	rs281865355
gwascentral	rs281865355
openSNP	rs281865355
23andMe	rs281865355
SNPshot	rs281865355
SNPdbe	rs281865355
MSV3d	rs281865355
GWAS Ctlg	rs281865355

Max Magnitude

0

ClinVar
Risk	rs281865355(A;A) rs281865355(C;C)
Alt	rs281865355(A;A) rs281865355(C;C)
Reference	Rs281865355(G;G)
Significance	Probable-Pathogenic
Disease	not provided Juvenile retinoschisis
Variation	info
Gene	CDKL5 RS1
CLNDBN	not provided Juvenile retinoschisis
Reversed	1
HGVS	NC_000023.10:g.18660209C>G; NC_000023.10:g.18660209C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000085339.1, RCV000085338.1, RCV000411288.1,