rs587783084

Orientation

plus

Stabilized

plus

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

Make rs587783084(A;A)

Make rs587783084(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18584325

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs587783084
dbSNP (classic)	rs587783084
ClinGen	rs587783084
ebi	rs587783084
HLI	rs587783084
Exac	rs587783084
Gnomad	rs587783084
Varsome	rs587783084
LitVar	rs587783084
Map	rs587783084
PheGenI	rs587783084
Biobank	rs587783084
1000 genomes	rs587783084
hgdp	rs587783084
ensembl	rs587783084
geneview	rs587783084
scholar	rs587783084
google	rs587783084
pharmgkb	rs587783084
gwascentral	rs587783084
openSNP	rs587783084
23andMe	rs587783084
SNPshot	rs587783084
SNPdbe	rs587783084
MSV3d	rs587783084
GWAS Ctlg	rs587783084

Max Magnitude

0

ClinVar
Risk	rs587783084(A;A) rs587783084(C;C) rs587783084(G;G)
Alt	rs587783084(A;A) rs587783084(C;C) rs587783084(G;G)
Reference	Rs587783084(T;T)
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.18602445T>A; NC_000023.10:g.18602445T>C; NC_000023.10:g.18602445T>G
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000144746.1, RCV000145542.1, RCV000170049.1,