rs757402424

Orientation

plus

Stabilized

plus

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

Make rs757402424(A;A)

Make rs757402424(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18584272

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs757402424
dbSNP (classic)	rs757402424
ClinGen	rs757402424
ebi	rs757402424
HLI	rs757402424
Exac	rs757402424
Gnomad	rs757402424
Varsome	rs757402424
LitVar	rs757402424
Map	rs757402424
PheGenI	rs757402424
Biobank	rs757402424
1000 genomes	rs757402424
hgdp	rs757402424
ensembl	rs757402424
geneview	rs757402424
scholar	rs757402424
google	rs757402424
pharmgkb	rs757402424
gwascentral	rs757402424
openSNP	rs757402424
23andMe	rs757402424
SNPshot	rs757402424
SNPdbe	rs757402424
MSV3d	rs757402424
GWAS Ctlg	rs757402424

Max Magnitude

0

ClinVar
Risk	rs757402424(A;A) rs757402424(C;C)
Alt	rs757402424(A;A) rs757402424(C;C)
Reference	Rs757402424(G;G)
Significance	Probable-Pathogenic
Disease	Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18602392G>C
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000169985.1,