rs794727064

Orientation

plus

Stabilized

plus

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

Make rs794727064(C;G)

Make rs794727064(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

18604076

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs794727064
dbSNP (classic)	rs794727064
ClinGen	rs794727064
ebi	rs794727064
HLI	rs794727064
Exac	rs794727064
Gnomad	rs794727064
Varsome	rs794727064
LitVar	rs794727064
Map	rs794727064
PheGenI	rs794727064
Biobank	rs794727064
1000 genomes	rs794727064
hgdp	rs794727064
ensembl	rs794727064
geneview	rs794727064
scholar	rs794727064
google	rs794727064
pharmgkb	rs794727064
gwascentral	rs794727064
openSNP	rs794727064
23andMe	rs794727064
SNPshot	rs794727064
SNPdbe	rs794727064
MSV3d	rs794727064
GWAS Ctlg	rs794727064

Max Magnitude

0

ClinVar
Risk	rs794727064(G;G)
Alt	rs794727064(G;G)
Reference	Rs794727064(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.18622196C>G
CLNSRC
CLNACC	RCV000174313.1,