rs267608532

Orientation

plus

Stabilized

plus

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

Make rs267608532(A;C)

Make rs267608532(C;C)

Reference

GRCh38 38.1/142

Chromosome

X

Position

18598491

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608532
dbSNP (classic)	rs267608532
ClinGen	rs267608532
ebi	rs267608532
HLI	rs267608532
Exac	rs267608532
Gnomad	rs267608532
Varsome	rs267608532
LitVar	rs267608532
Map	rs267608532
PheGenI	rs267608532
Biobank	rs267608532
1000 genomes	rs267608532
hgdp	rs267608532
ensembl	rs267608532
geneview	rs267608532
scholar	rs267608532
google	rs267608532
pharmgkb	rs267608532
gwascentral	rs267608532
openSNP	rs267608532
23andMe	rs267608532
SNPshot	rs267608532
SNPdbe	rs267608532
MSV3d	rs267608532
GWAS Ctlg	rs267608532

Max Magnitude

0

ClinVar
Risk	rs267608532(C;C)
Alt	rs267608532(C;C)
Reference	Rs267608532(A;A)
Significance	Probable-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.18616611A>C
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000133386.1, RCV000145547.1,