rs267608528

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AT;AT)	0	common in clinvar
(TA;TA)	0	common/normal

Make rs267608528(-;-)

Make rs267608528(-;TA)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18595404

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608528
dbSNP (classic)	rs267608528
ClinGen	rs267608528
ebi	rs267608528
HLI	rs267608528
Exac	rs267608528
Gnomad	rs267608528
Varsome	rs267608528
LitVar	rs267608528
Map	rs267608528
PheGenI	rs267608528
Biobank	rs267608528
1000 genomes	rs267608528
hgdp	rs267608528
ensembl	rs267608528
geneview	rs267608528
scholar	rs267608528
google	rs267608528
pharmgkb	rs267608528
gwascentral	rs267608528
openSNP	rs267608528
23andMe	rs267608528
SNPshot	rs267608528
SNPdbe	rs267608528
MSV3d	rs267608528
GWAS Ctlg	rs267608528

Max Magnitude

0

ClinVar
Risk	rs267608528(-;-)
Alt	rs267608528(-;-)
Reference	Rs267608528(AT;AT)
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.18613524_18613525delTA
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133384.2,