rs122460157

Orientation

plus

Stabilized

plus

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

Make rs122460157(G;T)

Make rs122460157(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18581942

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs122460157
dbSNP (classic)	rs122460157
ClinGen	rs122460157
ebi	rs122460157
HLI	rs122460157
Exac	rs122460157
Gnomad	rs122460157
Varsome	rs122460157
LitVar	rs122460157
Map	rs122460157
PheGenI	rs122460157
Biobank	rs122460157
1000 genomes	rs122460157
hgdp	rs122460157
ensembl	rs122460157
geneview	rs122460157
scholar	rs122460157
google	rs122460157
pharmgkb	rs122460157
gwascentral	rs122460157
openSNP	rs122460157
23andMe	rs122460157
SNPshot	rs122460157
SNPdbe	rs122460157
MSV3d	rs122460157
GWAS Ctlg	rs122460157

Max Magnitude

0

OMIM	300203
Desc
Variant	0003
Related	also

ClinVar
Risk	rs122460157(T;T)
Alt	rs122460157(T;T)
Reference	Rs122460157(G;G)
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.18600062G>T
CLNSRC	OMIM Allelic Variant RettBASE (CDKL5) UniProtKB (protein)
CLNACC	RCV000012251.21, RCV000133370.2,