rs267608663

Orientation

plus

Stabilized

plus

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

Make rs267608663(C;T)

Make rs267608663(T;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

18628467

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608663
dbSNP (classic)	rs267608663
ClinGen	rs267608663
ebi	rs267608663
HLI	rs267608663
Exac	rs267608663
Gnomad	rs267608663
Varsome	rs267608663
LitVar	rs267608663
Map	rs267608663
PheGenI	rs267608663
Biobank	rs267608663
1000 genomes	rs267608663
hgdp	rs267608663
ensembl	rs267608663
geneview	rs267608663
scholar	rs267608663
google	rs267608663
pharmgkb	rs267608663
gwascentral	rs267608663
openSNP	rs267608663
23andMe	rs267608663
SNPshot	rs267608663
SNPdbe	rs267608663
MSV3d	rs267608663
GWAS Ctlg	rs267608663

Max Magnitude

0

ClinVar
Risk	rs267608663(T;T)
Alt	rs267608663(T;T)
Reference	Rs267608663(C;C)
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.18646587C>T
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000145533.2,