rs587783399

Orientation

plus

Stabilized

plus

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

Make rs587783399(A;A)

Make rs587783399(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18575353

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs587783399
dbSNP (classic)	rs587783399
ClinGen	rs587783399
ebi	rs587783399
HLI	rs587783399
Exac	rs587783399
Gnomad	rs587783399
Varsome	rs587783399
LitVar	rs587783399
Map	rs587783399
PheGenI	rs587783399
Biobank	rs587783399
1000 genomes	rs587783399
hgdp	rs587783399
ensembl	rs587783399
geneview	rs587783399
scholar	rs587783399
google	rs587783399
pharmgkb	rs587783399
gwascentral	rs587783399
openSNP	rs587783399
23andMe	rs587783399
SNPshot	rs587783399
SNPdbe	rs587783399
MSV3d	rs587783399
GWAS Ctlg	rs587783399

Max Magnitude

0

ClinVar
Risk	rs587783399(A;A)
Alt	rs587783399(A;A)
Reference	Rs587783399(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18593473G>A
CLNSRC
CLNACC	RCV000145520.1,