rs786204976

Orientation

plus

Stabilized

plus

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

Make rs786204976(A;A)

Make rs786204976(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

X

Position

18608913

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs786204976
dbSNP (classic)	rs786204976
ClinGen	rs786204976
ebi	rs786204976
HLI	rs786204976
Exac	rs786204976
Gnomad	rs786204976
Varsome	rs786204976
LitVar	rs786204976
Map	rs786204976
PheGenI	rs786204976
Biobank	rs786204976
1000 genomes	rs786204976
hgdp	rs786204976
ensembl	rs786204976
geneview	rs786204976
scholar	rs786204976
google	rs786204976
pharmgkb	rs786204976
gwascentral	rs786204976
openSNP	rs786204976
23andMe	rs786204976
SNPshot	rs786204976
SNPdbe	rs786204976
MSV3d	rs786204976
GWAS Ctlg	rs786204976

Max Magnitude

0

ClinVar
Risk	rs786204976(A;A)
Alt	rs786204976(A;A)
Reference	Rs786204976(G;G)
Significance	Pathogenic
Disease	Atypical Rett syndrome
Variation	info
Gene	CDKL5
CLNDBN	Atypical Rett syndrome
Reversed	0
HGVS	NC_000023.10:g.18627033G>A
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000170015.1,