rs122460158

Orientation

plus

Stabilized

plus

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

Make rs122460158(C;T)

Make rs122460158(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18628374

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs122460158
dbSNP (classic)	rs122460158
ClinGen	rs122460158
ebi	rs122460158
HLI	rs122460158
Exac	rs122460158
Gnomad	rs122460158
Varsome	rs122460158
LitVar	rs122460158
Map	rs122460158
PheGenI	rs122460158
Biobank	rs122460158
1000 genomes	rs122460158
hgdp	rs122460158
ensembl	rs122460158
geneview	rs122460158
scholar	rs122460158
google	rs122460158
pharmgkb	rs122460158
gwascentral	rs122460158
openSNP	rs122460158
23andMe	rs122460158
SNPshot	rs122460158
SNPdbe	rs122460158
MSV3d	rs122460158
GWAS Ctlg	rs122460158

Max Magnitude

0

OMIM	300203
Desc
Variant	0007
Related	also

ClinVar
Risk	rs122460158(T;T)
Alt	rs122460158(T;T)
Reference	Rs122460158(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Variation	info
Gene	CDKL5
CLNDBN	Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Reversed	0
HGVS	NC_000023.10:g.18646494C>T
CLNSRC	OMIM Allelic Variant RettBASE (CDKL5)
CLNACC	RCV000012255.23, RCV000133352.2,