rs122460159

Orientation

plus

Stabilized

plus

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

Make rs122460159(C;T)

Make rs122460159(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18564496

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs122460159
dbSNP (classic)	rs122460159
ClinGen	rs122460159
ebi	rs122460159
HLI	rs122460159
Exac	rs122460159
Gnomad	rs122460159
Varsome	rs122460159
LitVar	rs122460159
Map	rs122460159
PheGenI	rs122460159
Biobank	rs122460159
1000 genomes	rs122460159
hgdp	rs122460159
ensembl	rs122460159
geneview	rs122460159
scholar	rs122460159
google	rs122460159
pharmgkb	rs122460159
gwascentral	rs122460159
openSNP	rs122460159
23andMe	rs122460159
SNPshot	rs122460159
SNPdbe	rs122460159
MSV3d	rs122460159
GWAS Ctlg	rs122460159

Max Magnitude

0

OMIM	300203
Desc
Variant	0009
Related	also

ClinVar
Risk	rs122460159(T;T)
Alt	rs122460159(T;T)
Reference	Rs122460159(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.18582616C>T
CLNSRC	OMIM Allelic Variant RettBASE (CDKL5) UniProtKB (protein)
CLNACC	RCV000012257.11, RCV000133317.2,