rs267608546

Orientation

plus

Stabilized

plus

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

Make rs267608546(-;GA)

Make rs267608546(GA;GA)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18598539

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608546
dbSNP (classic)	rs267608546
ClinGen	rs267608546
ebi	rs267608546
HLI	rs267608546
Exac	rs267608546
Gnomad	rs267608546
Varsome	rs267608546
LitVar	rs267608546
Map	rs267608546
PheGenI	rs267608546
Biobank	rs267608546
1000 genomes	rs267608546
hgdp	rs267608546
ensembl	rs267608546
geneview	rs267608546
scholar	rs267608546
google	rs267608546
pharmgkb	rs267608546
gwascentral	rs267608546
openSNP	rs267608546
23andMe	rs267608546
SNPshot	rs267608546
SNPdbe	rs267608546
MSV3d	rs267608546
GWAS Ctlg	rs267608546

Max Magnitude

0

ClinVar
Risk	rs267608546(AG;AG)
Alt	rs267608546(AG;AG)
Reference	Rs267608546(-;-)
Significance	Pathogenic
Disease	Angelman syndrome
Variation	info
Gene	CDKL5
CLNDBN	Angelman syndrome
Reversed	0
HGVS	NC_000023.10:g.18616658_18616659dupGA
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133391.2,