rs267608477

Orientation

plus

Stabilized

plus

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

Make rs267608477(A;A)

Make rs267608477(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18581912

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608477
dbSNP (classic)	rs267608477
ClinGen	rs267608477
ebi	rs267608477
HLI	rs267608477
Exac	rs267608477
Gnomad	rs267608477
Varsome	rs267608477
LitVar	rs267608477
Map	rs267608477
PheGenI	rs267608477
Biobank	rs267608477
1000 genomes	rs267608477
hgdp	rs267608477
ensembl	rs267608477
geneview	rs267608477
scholar	rs267608477
google	rs267608477
pharmgkb	rs267608477
gwascentral	rs267608477
openSNP	rs267608477
23andMe	rs267608477
SNPshot	rs267608477
SNPdbe	rs267608477
MSV3d	rs267608477
GWAS Ctlg	rs267608477

Max Magnitude

0

ClinVar
Risk	rs267608477(A;A)
Alt	rs267608477(A;A)
Reference	Rs267608477(T;T)
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.18600032T>A
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133369.2,