rs281865348

Orientation

minus

Stabilized

minus

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

Make rs281865348(G;T)

Make rs281865348(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

18644429

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs281865348
dbSNP (classic)	rs281865348
ClinGen	rs281865348
ebi	rs281865348
HLI	rs281865348
Exac	rs281865348
Gnomad	rs281865348
Varsome	rs281865348
LitVar	rs281865348
Map	rs281865348
PheGenI	rs281865348
Biobank	rs281865348
1000 genomes	rs281865348
hgdp	rs281865348
ensembl	rs281865348
geneview	rs281865348
scholar	rs281865348
google	rs281865348
pharmgkb	rs281865348
gwascentral	rs281865348
openSNP	rs281865348
23andMe	rs281865348
SNPshot	rs281865348
SNPdbe	rs281865348
MSV3d	rs281865348
GWAS Ctlg	rs281865348

Max Magnitude

0

ClinVar
Risk	rs281865348(A;A) rs281865348(T;T)
Alt	rs281865348(A;A) rs281865348(T;T)
Reference	Rs281865348(G;G)
Significance	Pathogenic
Disease	not provided Juvenile retinoschisis
Variation	info
Gene	CDKL5 RS1
CLNDBN	not provided Juvenile retinoschisis
Reversed	1
HGVS	NC_000023.10:g.18662549C>A; NC_000023.10:g.18662549C>T
CLNSRC
CLNACC	RCV000085321.1, RCV000085320.1, RCV000411037.1,