rs267608511

Orientation

plus

Stabilized

plus

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

Make rs267608511(C;C)

Make rs267608511(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18588058

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608511
dbSNP (classic)	rs267608511
ClinGen	rs267608511
ebi	rs267608511
HLI	rs267608511
Exac	rs267608511
Gnomad	rs267608511
Varsome	rs267608511
LitVar	rs267608511
Map	rs267608511
PheGenI	rs267608511
Biobank	rs267608511
1000 genomes	rs267608511
hgdp	rs267608511
ensembl	rs267608511
geneview	rs267608511
scholar	rs267608511
google	rs267608511
pharmgkb	rs267608511
gwascentral	rs267608511
openSNP	rs267608511
23andMe	rs267608511
SNPshot	rs267608511
SNPdbe	rs267608511
MSV3d	rs267608511
GWAS Ctlg	rs267608511

Max Magnitude

0

ClinVar
Risk	rs267608511(C;C)
Alt	rs267608511(C;C)
Reference	Rs267608511(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.18606178T>C
CLNSRC	RettBASE (CDKL5) UniProtKB (protein)
CLNACC	RCV000133381.2,