rs267608418

Orientation

plus

Stabilized

plus

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

Make rs267608418(C;C)

Make rs267608418(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

18507154

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267608418
dbSNP (classic)	rs267608418
ClinGen	rs267608418
ebi	rs267608418
HLI	rs267608418
Exac	rs267608418
Gnomad	rs267608418
Varsome	rs267608418
LitVar	rs267608418
Map	rs267608418
PheGenI	rs267608418
Biobank	rs267608418
1000 genomes	rs267608418
hgdp	rs267608418
ensembl	rs267608418
geneview	rs267608418
scholar	rs267608418
google	rs267608418
pharmgkb	rs267608418
gwascentral	rs267608418
openSNP	rs267608418
23andMe	rs267608418
SNPshot	rs267608418
SNPdbe	rs267608418
MSV3d	rs267608418
GWAS Ctlg	rs267608418

Max Magnitude

0

ClinVar
Risk	rs267608418(C;C)
Alt	rs267608418(C;C)
Reference	Rs267608418(G;G)
Significance	Probable-Pathogenic
Disease	Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18525274G>C
CLNSRC	RettBASE (CDKL5)
CLNACC	RCV000133379.2,