rs267608643

Orientation

plus

Stabilized

plus

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

Make rs267608643(C;T)

Make rs267608643(T;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

18604572

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608643
dbSNP (classic)	rs267608643
ClinGen	rs267608643
ebi	rs267608643
HLI	rs267608643
Exac	rs267608643
Gnomad	rs267608643
Varsome	rs267608643
LitVar	rs267608643
Map	rs267608643
PheGenI	rs267608643
Biobank	rs267608643
1000 genomes	rs267608643
hgdp	rs267608643
ensembl	rs267608643
geneview	rs267608643
scholar	rs267608643
google	rs267608643
pharmgkb	rs267608643
gwascentral	rs267608643
openSNP	rs267608643
23andMe	rs267608643
SNPshot	rs267608643
SNPdbe	rs267608643
MSV3d	rs267608643
GWAS Ctlg	rs267608643

Max Magnitude

0

ClinVar
Risk	rs267608643(T;T)
Alt	rs267608643(T;T)
Reference	Rs267608643(C;C)
Significance	Pathogenic
Disease	not provided Atypical Rett syndrome Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	not provided Atypical Rett syndrome Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18622692C>T
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133327.4, RCV000169916.1, RCV000170009.1,