rs62643608

Orientation

plus

Stabilized

plus

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

Make rs62643608(-;-)

Make rs62643608(-;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18575391

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs62643608
dbSNP (classic)	rs62643608
ClinGen	rs62643608
ebi	rs62643608
HLI	rs62643608
Exac	rs62643608
Gnomad	rs62643608
Varsome	rs62643608
LitVar	rs62643608
Map	rs62643608
PheGenI	rs62643608
Biobank	rs62643608
1000 genomes	rs62643608
hgdp	rs62643608
ensembl	rs62643608
geneview	rs62643608
scholar	rs62643608
google	rs62643608
pharmgkb	rs62643608
gwascentral	rs62643608
openSNP	rs62643608
23andMe	rs62643608
SNPshot	rs62643608
SNPdbe	rs62643608
MSV3d	rs62643608
GWAS Ctlg	rs62643608

Max Magnitude

0

ClinVar
Risk	rs62643608(-;-)
Alt	rs62643608(-;-)
Reference	Rs62643608(T;T)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 2 Atypical Rett syndrome Autism
Variation	info
Gene	CDKL5
CLNDBN	Early infantile epileptic encephalopathy 2 Atypical Rett syndrome Autism
Reversed	0
HGVS	NC_000023.10:g.18593511delT
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133332.2, RCV000170012.1, RCV000170013.1,