rs786204973

Orientation

plus

Stabilized

plus

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

Make rs786204973(A;G)

Make rs786204973(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

X

Position

18506933

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs786204973
dbSNP (classic)	rs786204973
ClinGen	rs786204973
ebi	rs786204973
HLI	rs786204973
Exac	rs786204973
Gnomad	rs786204973
Varsome	rs786204973
LitVar	rs786204973
Map	rs786204973
PheGenI	rs786204973
Biobank	rs786204973
1000 genomes	rs786204973
hgdp	rs786204973
ensembl	rs786204973
geneview	rs786204973
scholar	rs786204973
google	rs786204973
pharmgkb	rs786204973
gwascentral	rs786204973
openSNP	rs786204973
23andMe	rs786204973
SNPshot	rs786204973
SNPdbe	rs786204973
MSV3d	rs786204973
GWAS Ctlg	rs786204973

Max Magnitude

0

ClinVar
Risk	rs786204973(G;G)
Alt	rs786204973(G;G)
Reference	Rs786204973(A;A)
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.18525053A>G
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000170007.1,