rs267608537

Orientation

plus

Stabilized

plus

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

Make rs267608537(-;A)

Make rs267608537(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18598503

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608537
dbSNP (classic)	rs267608537
ClinGen	rs267608537
ebi	rs267608537
HLI	rs267608537
Exac	rs267608537
Gnomad	rs267608537
Varsome	rs267608537
LitVar	rs267608537
Map	rs267608537
PheGenI	rs267608537
Biobank	rs267608537
1000 genomes	rs267608537
hgdp	rs267608537
ensembl	rs267608537
geneview	rs267608537
scholar	rs267608537
google	rs267608537
pharmgkb	rs267608537
gwascentral	rs267608537
openSNP	rs267608537
23andMe	rs267608537
SNPshot	rs267608537
SNPdbe	rs267608537
MSV3d	rs267608537
GWAS Ctlg	rs267608537

Max Magnitude

0

ClinVar
Risk	rs267608537(A;A)
Alt	rs267608537(A;A)
Reference	Rs267608537(-;-)
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.18616623dupA
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133388.2,