rs267608649

Orientation

plus

Stabilized

plus

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

Make rs267608649(-;C)

Make rs267608649(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18608882

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608649
dbSNP (classic)	rs267608649
ClinGen	rs267608649
ebi	rs267608649
HLI	rs267608649
Exac	rs267608649
Gnomad	rs267608649
Varsome	rs267608649
LitVar	rs267608649
Map	rs267608649
PheGenI	rs267608649
Biobank	rs267608649
1000 genomes	rs267608649
hgdp	rs267608649
ensembl	rs267608649
geneview	rs267608649
scholar	rs267608649
google	rs267608649
pharmgkb	rs267608649
gwascentral	rs267608649
openSNP	rs267608649
23andMe	rs267608649
SNPshot	rs267608649
SNPdbe	rs267608649
MSV3d	rs267608649
GWAS Ctlg	rs267608649

Max Magnitude

0

ClinVar
Risk	rs267608649(C;C)
Alt	rs267608649(C;C)
Reference	Rs267608649(-;-)
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.18627002dupC
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133340.2,