rs587783072

Orientation

plus

Stabilized

plus

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

Make rs587783072(A;G)

Make rs587783072(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18575419

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs587783072
dbSNP (classic)	rs587783072
ClinGen	rs587783072
ebi	rs587783072
HLI	rs587783072
Exac	rs587783072
Gnomad	rs587783072
Varsome	rs587783072
LitVar	rs587783072
Map	rs587783072
PheGenI	rs587783072
Biobank	rs587783072
1000 genomes	rs587783072
hgdp	rs587783072
ensembl	rs587783072
geneview	rs587783072
scholar	rs587783072
google	rs587783072
pharmgkb	rs587783072
gwascentral	rs587783072
openSNP	rs587783072
23andMe	rs587783072
SNPshot	rs587783072
SNPdbe	rs587783072
MSV3d	rs587783072
GWAS Ctlg	rs587783072

Max Magnitude

0

ClinVar
Risk	rs587783072(G;G)
Alt	rs587783072(G;G)
Reference	Rs587783072(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.18593539A>G
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000144734.1, RCV000169981.1,