rs267608437

Orientation

plus

Stabilized

plus

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

Make rs267608437(C;T)

Make rs267608437(T;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

18575407

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608437
dbSNP (classic)	rs267608437
ClinGen	rs267608437
ebi	rs267608437
HLI	rs267608437
Exac	rs267608437
Gnomad	rs267608437
Varsome	rs267608437
LitVar	rs267608437
Map	rs267608437
PheGenI	rs267608437
Biobank	rs267608437
1000 genomes	rs267608437
hgdp	rs267608437
ensembl	rs267608437
geneview	rs267608437
scholar	rs267608437
google	rs267608437
pharmgkb	rs267608437
gwascentral	rs267608437
openSNP	rs267608437
23andMe	rs267608437
SNPshot	rs267608437
SNPdbe	rs267608437
MSV3d	rs267608437
GWAS Ctlg	rs267608437

Max Magnitude

0

ClinVar
Risk	rs267608437(T;T)
Alt	rs267608437(T;T)
Reference	Rs267608437(C;C)
Significance	Pathogenic
Disease	Rett syndrome Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	Rett syndrome Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18593527C>T
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000133338.3, RCV000145527.1,