rs281865361

Orientation

minus

Stabilized

minus

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

Make rs281865361(C;T)

Make rs281865361(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

18642054

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs281865361
dbSNP (classic)	rs281865361
ClinGen	rs281865361
ebi	rs281865361
HLI	rs281865361
Exac	rs281865361
Gnomad	rs281865361
Varsome	rs281865361
LitVar	rs281865361
Map	rs281865361
PheGenI	rs281865361
Biobank	rs281865361
1000 genomes	rs281865361
hgdp	rs281865361
ensembl	rs281865361
geneview	rs281865361
scholar	rs281865361
google	rs281865361
pharmgkb	rs281865361
gwascentral	rs281865361
openSNP	rs281865361
23andMe	rs281865361
SNPshot	rs281865361
SNPdbe	rs281865361
MSV3d	rs281865361
GWAS Ctlg	rs281865361

Max Magnitude

0

ClinVar
Risk	rs281865361(G;G) rs281865361(T;T)
Alt	rs281865361(G;G) rs281865361(T;T)
Reference	Rs281865361(C;C)
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.18660174G>A; NC_000023.10:g.18660174G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000085348.1, RCV000410285.1, RCV000085347.1,