rs267608433

Orientation

plus

Stabilized

plus

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

Make rs267608433(-;-)

Make rs267608433(-;GAAA)

Make rs267608433(GAAA;GAAA)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18575371

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608433
dbSNP (classic)	rs267608433
ClinGen	rs267608433
ebi	rs267608433
HLI	rs267608433
Exac	rs267608433
Gnomad	rs267608433
Varsome	rs267608433
LitVar	rs267608433
Map	rs267608433
PheGenI	rs267608433
Biobank	rs267608433
1000 genomes	rs267608433
hgdp	rs267608433
ensembl	rs267608433
geneview	rs267608433
scholar	rs267608433
google	rs267608433
pharmgkb	rs267608433
gwascentral	rs267608433
openSNP	rs267608433
23andMe	rs267608433
SNPshot	rs267608433
SNPdbe	rs267608433
MSV3d	rs267608433
GWAS Ctlg	rs267608433

Max Magnitude

0

ClinVar
Risk	rs267608433(-;-)
Alt	rs267608433(-;-)
Reference	Rs267608433(AAAG;AAAG)
Significance	Pathogenic
Disease	Atypical Rett syndrome Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	Atypical Rett syndrome Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18593491_18593494delGAAA
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133326.2, RCV000170008.1,