rs267608395

Orientation

plus

Stabilized

plus

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

Make rs267608395(C;T)

Make rs267608395(T;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

18604599

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608395
dbSNP (classic)	rs267608395
ClinGen	rs267608395
ebi	rs267608395
HLI	rs267608395
Exac	rs267608395
Gnomad	rs267608395
Varsome	rs267608395
LitVar	rs267608395
Map	rs267608395
PheGenI	rs267608395
Biobank	rs267608395
1000 genomes	rs267608395
hgdp	rs267608395
ensembl	rs267608395
geneview	rs267608395
scholar	rs267608395
google	rs267608395
pharmgkb	rs267608395
gwascentral	rs267608395
openSNP	rs267608395
23andMe	rs267608395
SNPshot	rs267608395
SNPdbe	rs267608395
MSV3d	rs267608395
GWAS Ctlg	rs267608395

Max Magnitude

0

ClinVar
Risk	rs267608395(T;T)
Alt	rs267608395(T;T)
Reference	Rs267608395(C;C)
Significance	Pathogenic
Disease	not provided Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Variation	info
Gene	CDKL5
CLNDBN	not provided Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Reversed	0
HGVS	NC_000023.10:g.18622719C>T
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133328.4, RCV000145521.2, RCV000169917.1,