rs17857094

Orientation

plus

Stabilized

plus

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

Make rs17857094(C;T)

Make rs17857094(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18625245

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs17857094
dbSNP (classic)	rs17857094
ClinGen	rs17857094
ebi	rs17857094
HLI	rs17857094
Exac	rs17857094
Gnomad	rs17857094
Varsome	rs17857094
LitVar	rs17857094
Map	rs17857094
PheGenI	rs17857094
Biobank	rs17857094
1000 genomes	rs17857094
hgdp	rs17857094
ensembl	rs17857094
geneview	rs17857094
scholar	rs17857094
google	rs17857094
pharmgkb	rs17857094
gwascentral	rs17857094
openSNP	rs17857094
23andMe	rs17857094
SNPshot	rs17857094
SNPdbe	rs17857094
MSV3d	rs17857094
GWAS Ctlg	rs17857094

Max Magnitude

0

ClinVar
Risk	rs17857094(T;T)
Alt	rs17857094(T;T)
Reference	Rs17857094(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.18643365C>T
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000170023.1,