rs267608419

Orientation

plus

Stabilized

plus

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

Make rs267608419(-;-)

Make rs267608419(-;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18507162

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608419
dbSNP (classic)	rs267608419
ClinGen	rs267608419
ebi	rs267608419
HLI	rs267608419
Exac	rs267608419
Gnomad	rs267608419
Varsome	rs267608419
LitVar	rs267608419
Map	rs267608419
PheGenI	rs267608419
Biobank	rs267608419
1000 genomes	rs267608419
hgdp	rs267608419
ensembl	rs267608419
geneview	rs267608419
scholar	rs267608419
google	rs267608419
pharmgkb	rs267608419
gwascentral	rs267608419
openSNP	rs267608419
23andMe	rs267608419
SNPshot	rs267608419
SNPdbe	rs267608419
MSV3d	rs267608419
GWAS Ctlg	rs267608419

Max Magnitude

0

ClinVar
Risk	rs267608419(-;-)
Alt	rs267608419(-;-)
Reference	Rs267608419(T;T)
Significance	Pathogenic
Disease	not provided Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	not provided Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18525282delT
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000144141.1, RCV000170051.1,