rs267608552

Orientation

plus

Stabilized

plus

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

Make rs267608552(-;A)

Make rs267608552(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18598600

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608552
dbSNP (classic)	rs267608552
ClinGen	rs267608552
ebi	rs267608552
HLI	rs267608552
Exac	rs267608552
Gnomad	rs267608552
Varsome	rs267608552
LitVar	rs267608552
Map	rs267608552
PheGenI	rs267608552
Biobank	rs267608552
1000 genomes	rs267608552
hgdp	rs267608552
ensembl	rs267608552
geneview	rs267608552
scholar	rs267608552
google	rs267608552
pharmgkb	rs267608552
gwascentral	rs267608552
openSNP	rs267608552
23andMe	rs267608552
SNPshot	rs267608552
SNPdbe	rs267608552
MSV3d	rs267608552
GWAS Ctlg	rs267608552

Max Magnitude

0

ClinVar
Risk	rs267608552(A;A)
Alt	rs267608552(A;A)
Reference	Rs267608552(-;-)
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.18616720dupA
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133393.2,