rs786204975

Orientation

plus

Stabilized

plus

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

Make rs786204975(-;-)

Make rs786204975(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

X

Position

18604778

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs786204975
dbSNP (classic)	rs786204975
ClinGen	rs786204975
ebi	rs786204975
HLI	rs786204975
Exac	rs786204975
Gnomad	rs786204975
Varsome	rs786204975
LitVar	rs786204975
Map	rs786204975
PheGenI	rs786204975
Biobank	rs786204975
1000 genomes	rs786204975
hgdp	rs786204975
ensembl	rs786204975
geneview	rs786204975
scholar	rs786204975
google	rs786204975
pharmgkb	rs786204975
gwascentral	rs786204975
openSNP	rs786204975
23andMe	rs786204975
SNPshot	rs786204975
SNPdbe	rs786204975
MSV3d	rs786204975
GWAS Ctlg	rs786204975

Max Magnitude

0

ClinVar
Risk	rs786204975(-;-)
Alt	rs786204975(-;-)
Reference	Rs786204975(C;C)
Significance	Pathogenic
Disease	Atypical Rett syndrome
Variation	info
Gene	CDKL5
CLNDBN	Atypical Rett syndrome
Reversed	0
HGVS	NC_000023.10:g.18622898delC
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000170014.1,