rs267608430

Orientation

plus

Stabilized

plus

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

Make rs267608430(C;C)

Make rs267608430(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18564524

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608430
dbSNP (classic)	rs267608430
ClinGen	rs267608430
ebi	rs267608430
HLI	rs267608430
Exac	rs267608430
Gnomad	rs267608430
Varsome	rs267608430
LitVar	rs267608430
Map	rs267608430
PheGenI	rs267608430
Biobank	rs267608430
1000 genomes	rs267608430
hgdp	rs267608430
ensembl	rs267608430
geneview	rs267608430
scholar	rs267608430
google	rs267608430
pharmgkb	rs267608430
gwascentral	rs267608430
openSNP	rs267608430
23andMe	rs267608430
SNPshot	rs267608430
SNPdbe	rs267608430
MSV3d	rs267608430
GWAS Ctlg	rs267608430

Max Magnitude

0

ClinVar
Risk	rs267608430(C;C)
Alt	rs267608430(C;C)
Reference	Rs267608430(T;T)
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.18582644T>C
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000144121.1, RCV000169999.1,