rs863225289

Orientation

plus

Stabilized

plus

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

Make rs863225289(C;T)

Make rs863225289(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

18628590

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs863225289
dbSNP (classic)	rs863225289
ClinGen	rs863225289
ebi	rs863225289
HLI	rs863225289
Exac	rs863225289
Gnomad	rs863225289
Varsome	rs863225289
LitVar	rs863225289
Map	rs863225289
PheGenI	rs863225289
Biobank	rs863225289
1000 genomes	rs863225289
hgdp	rs863225289
ensembl	rs863225289
geneview	rs863225289
scholar	rs863225289
google	rs863225289
pharmgkb	rs863225289
gwascentral	rs863225289
openSNP	rs863225289
23andMe	rs863225289
SNPshot	rs863225289
SNPdbe	rs863225289
MSV3d	rs863225289
GWAS Ctlg	rs863225289

Max Magnitude

0

ClinVar
Risk	rs863225289(T;T)
Alt	rs863225289(T;T)
Reference	Rs863225289(C;C)
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.18646710C>T
CLNSRC
CLNACC	RCV000201936.1,