rs267608497

Orientation

plus

Stabilized

plus

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

Make rs267608497(-;A)

Make rs267608497(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18584348

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608497
dbSNP (classic)	rs267608497
ClinGen	rs267608497
ebi	rs267608497
HLI	rs267608497
Exac	rs267608497
Gnomad	rs267608497
Varsome	rs267608497
LitVar	rs267608497
Map	rs267608497
PheGenI	rs267608497
Biobank	rs267608497
1000 genomes	rs267608497
hgdp	rs267608497
ensembl	rs267608497
geneview	rs267608497
scholar	rs267608497
google	rs267608497
pharmgkb	rs267608497
gwascentral	rs267608497
openSNP	rs267608497
23andMe	rs267608497
SNPshot	rs267608497
SNPdbe	rs267608497
MSV3d	rs267608497
GWAS Ctlg	rs267608497

Max Magnitude

0

ClinVar
Risk	rs267608497(A;A)
Alt	rs267608497(A;A)
Reference	Rs267608497(-;-)
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.18602468dupA
CLNSRC
CLNACC	RCV000133376.2, RCV000192825.1,