rs267608468

Orientation

plus

Stabilized

plus

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

Make rs267608468(A;G)

Make rs267608468(G;G)

Reference

GRCh38 38.1/142

Chromosome

X

Position

18579945

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608468
dbSNP (classic)	rs267608468
ClinGen	rs267608468
ebi	rs267608468
HLI	rs267608468
Exac	rs267608468
Gnomad	rs267608468
Varsome	rs267608468
LitVar	rs267608468
Map	rs267608468
PheGenI	rs267608468
Biobank	rs267608468
1000 genomes	rs267608468
hgdp	rs267608468
ensembl	rs267608468
geneview	rs267608468
scholar	rs267608468
google	rs267608468
pharmgkb	rs267608468
gwascentral	rs267608468
openSNP	rs267608468
23andMe	rs267608468
SNPshot	rs267608468
SNPdbe	rs267608468
MSV3d	rs267608468
GWAS Ctlg	rs267608468

Max Magnitude

0

ClinVar
Risk	rs267608468(G;G)
Alt	rs267608468(G;G)
Reference	Rs267608468(A;A)
Significance	Pathogenic
Disease	not provided Atypical Rett syndrome
Variation	info
Gene	CDKL5
CLNDBN	not provided Atypical Rett syndrome
Reversed	0
HGVS	NC_000023.10:g.18598065A>G
CLNSRC	RettBASE (CDKL5) UniProtKB (protein)
CLNACC	RCV000133366.4, RCV000169914.1,