rs267606713

Orientation

plus

Stabilized

plus

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

Make rs267606713(C;T)

Make rs267606713(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18598499

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267606713
dbSNP (classic)	rs267606713
ClinGen	rs267606713
ebi	rs267606713
HLI	rs267606713
Exac	rs267606713
Gnomad	rs267606713
Varsome	rs267606713
LitVar	rs267606713
Map	rs267606713
PheGenI	rs267606713
Biobank	rs267606713
1000 genomes	rs267606713
hgdp	rs267606713
ensembl	rs267606713
geneview	rs267606713
scholar	rs267606713
google	rs267606713
pharmgkb	rs267606713
gwascentral	rs267606713
openSNP	rs267606713
23andMe	rs267606713
SNPshot	rs267606713
SNPdbe	rs267606713
MSV3d	rs267606713
GWAS Ctlg	rs267606713

Max Magnitude

0

ClinVar
Risk	rs267606713(T;T)
Alt	rs267606713(T;T)
Reference	Rs267606713(C;C)
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.18616619C>T
CLNSRC	OMIM Allelic Variant RettBASE (CDKL5) UniProtKB (protein)
CLNACC	RCV000012259.14,