rs267606714

Orientation

plus

Stabilized

plus

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

Make rs267606714(A;A)

Make rs267606714(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18598508

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs267606714
dbSNP (classic)	rs267606714
ClinGen	rs267606714
ebi	rs267606714
HLI	rs267606714
Exac	rs267606714
Gnomad	rs267606714
Varsome	rs267606714
LitVar	rs267606714
Map	rs267606714
PheGenI	rs267606714
Biobank	rs267606714
1000 genomes	rs267606714
hgdp	rs267606714
ensembl	rs267606714
geneview	rs267606714
scholar	rs267606714
google	rs267606714
pharmgkb	rs267606714
gwascentral	rs267606714
openSNP	rs267606714
23andMe	rs267606714
SNPshot	rs267606714
SNPdbe	rs267606714
MSV3d	rs267606714
GWAS Ctlg	rs267606714

Max Magnitude

0

ClinVar
Risk	rs267606714(A;A)
Alt	rs267606714(A;A)
Reference	Rs267606714(G;G)
Significance	Other
Disease	Early infantile epileptic encephalopathy 2
Variation	info
Gene	CDKL5
CLNDBN	Early infantile epileptic encephalopathy 2
Reversed	0
HGVS	NC_000023.10:g.18616628G>A
CLNSRC	OMIM Allelic Variant RettBASE (CDKL5) UniProtKB (protein)
CLNACC	RCV000012260.22,