rs267608415

Orientation

plus

Stabilized

plus

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

Make rs267608415(-;-)

Make rs267608415(-;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18507135

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608415
dbSNP (classic)	rs267608415
ClinGen	rs267608415
ebi	rs267608415
HLI	rs267608415
Exac	rs267608415
Gnomad	rs267608415
Varsome	rs267608415
LitVar	rs267608415
Map	rs267608415
PheGenI	rs267608415
Biobank	rs267608415
1000 genomes	rs267608415
hgdp	rs267608415
ensembl	rs267608415
geneview	rs267608415
scholar	rs267608415
google	rs267608415
pharmgkb	rs267608415
gwascentral	rs267608415
openSNP	rs267608415
23andMe	rs267608415
SNPshot	rs267608415
SNPdbe	rs267608415
MSV3d	rs267608415
GWAS Ctlg	rs267608415

Max Magnitude

0

ClinVar
Risk	rs267608415(-;-)
Alt	rs267608415(-;-)
Reference	Rs267608415(T;T)
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.18525255delT
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133367.2,