rs267608423

Orientation

plus

Stabilized

plus

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

Make rs267608423(A;G)

Make rs267608423(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18564475

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608423
dbSNP (classic)	rs267608423
ClinGen	rs267608423
ebi	rs267608423
HLI	rs267608423
Exac	rs267608423
Gnomad	rs267608423
Varsome	rs267608423
LitVar	rs267608423
Map	rs267608423
PheGenI	rs267608423
Biobank	rs267608423
1000 genomes	rs267608423
hgdp	rs267608423
ensembl	rs267608423
geneview	rs267608423
scholar	rs267608423
google	rs267608423
pharmgkb	rs267608423
gwascentral	rs267608423
openSNP	rs267608423
23andMe	rs267608423
SNPshot	rs267608423
SNPdbe	rs267608423
MSV3d	rs267608423
GWAS Ctlg	rs267608423

Max Magnitude

0

ClinVar
Risk	rs267608423(G;G)
Alt	rs267608423(G;G)
Reference	Rs267608423(A;A)
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.18582595A>G
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000144120.1, RCV000169990.1,