rs1057519541

Orientation

plus

Stabilized

plus

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

Make rs1057519541(C;T)

Make rs1057519541(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

18628515

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs1057519541
dbSNP (classic)	rs1057519541
ClinGen	rs1057519541
ebi	rs1057519541
HLI	rs1057519541
Exac	rs1057519541
Gnomad	rs1057519541
Varsome	rs1057519541
LitVar	rs1057519541
Map	rs1057519541
PheGenI	rs1057519541
Biobank	rs1057519541
1000 genomes	rs1057519541
hgdp	rs1057519541
ensembl	rs1057519541
geneview	rs1057519541
scholar	rs1057519541
google	rs1057519541
pharmgkb	rs1057519541
gwascentral	rs1057519541
openSNP	rs1057519541
23andMe	rs1057519541
SNPshot	rs1057519541
SNPdbe	rs1057519541
MSV3d	rs1057519541
GWAS Ctlg	rs1057519541

Max Magnitude

0

ClinVar
Risk	rs1057519541(T;T)
Alt	rs1057519541(T;T)
Reference	Rs1057519541(C;C)
Significance	Pathogenic
Disease	Focal epilepsy
Variation	info
Gene	CDKL5
CLNDBN	Focal epilepsy
Reversed	0
HGVS	NC_000023.10:g.18646635C>T
CLNSRC
CLNACC	RCV000416943.1,