rs786204972

Orientation

plus

Stabilized

plus

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

Make rs786204972(-;-)

Make rs786204972(-;T)

Reference

GRCh38.p2 38.2/146

Chromosome

X

Position

18604474

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs786204972
dbSNP (classic)	rs786204972
ClinGen	rs786204972
ebi	rs786204972
HLI	rs786204972
Exac	rs786204972
Gnomad	rs786204972
Varsome	rs786204972
LitVar	rs786204972
Map	rs786204972
PheGenI	rs786204972
Biobank	rs786204972
1000 genomes	rs786204972
hgdp	rs786204972
ensembl	rs786204972
geneview	rs786204972
scholar	rs786204972
google	rs786204972
pharmgkb	rs786204972
gwascentral	rs786204972
openSNP	rs786204972
23andMe	rs786204972
SNPshot	rs786204972
SNPdbe	rs786204972
MSV3d	rs786204972
GWAS Ctlg	rs786204972

Max Magnitude

0

ClinVar
Risk	rs786204972(-;-)
Alt	rs786204972(-;-)
Reference	Rs786204972(T;T)
Significance	Pathogenic
Disease	Atypical Rett syndrome
Variation	info
Gene	CDKL5
CLNDBN	Atypical Rett syndrome
Reversed	0
HGVS	NC_000023.10:g.18622594delT
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000170001.1,