rs786204987

Orientation

plus

Stabilized

plus

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

Make rs786204987(-;-)

Make rs786204987(-;CA)

Make rs786204987(CA;CA)

Reference

GRCh38.p2 38.2/146

Chromosome

X

Position

18584305

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs786204987
dbSNP (classic)	rs786204987
ClinGen	rs786204987
ebi	rs786204987
HLI	rs786204987
Exac	rs786204987
Gnomad	rs786204987
Varsome	rs786204987
LitVar	rs786204987
Map	rs786204987
PheGenI	rs786204987
Biobank	rs786204987
1000 genomes	rs786204987
hgdp	rs786204987
ensembl	rs786204987
geneview	rs786204987
scholar	rs786204987
google	rs786204987
pharmgkb	rs786204987
gwascentral	rs786204987
openSNP	rs786204987
23andMe	rs786204987
SNPshot	rs786204987
SNPdbe	rs786204987
MSV3d	rs786204987
GWAS Ctlg	rs786204987

Max Magnitude

0

ClinVar
Risk	rs786204987(-;-)
Alt	rs786204987(-;-)
Reference	Rs786204987(AC;AC)
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.18602425_18602426delCA
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000170047.1,