rs267608647

Orientation

plus

Stabilized

plus

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

Make rs267608647(C;T)

Make rs267608647(T;T)

Reference

GRCh38 38.1/142

Chromosome

X

Position

18608820

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608647
dbSNP (classic)	rs267608647
ClinGen	rs267608647
ebi	rs267608647
HLI	rs267608647
Exac	rs267608647
Gnomad	rs267608647
Varsome	rs267608647
LitVar	rs267608647
Map	rs267608647
PheGenI	rs267608647
Biobank	rs267608647
1000 genomes	rs267608647
hgdp	rs267608647
ensembl	rs267608647
geneview	rs267608647
scholar	rs267608647
google	rs267608647
pharmgkb	rs267608647
gwascentral	rs267608647
openSNP	rs267608647
23andMe	rs267608647
SNPshot	rs267608647
SNPdbe	rs267608647
MSV3d	rs267608647
GWAS Ctlg	rs267608647

Max Magnitude

0

ClinVar
Risk	rs267608647(T;T)
Alt	rs267608647(T;T)
Reference	Rs267608647(C;C)
Significance	Pathogenic
Disease	not provided Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	not provided Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18626940C>T
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000133337.2, RCV000145526.1,