rs1057519542

Orientation

plus

Stabilized

plus

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

Make rs1057519542(-;GACC)

Make rs1057519542(GACC;GACC)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

18604376

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs1057519542
dbSNP (classic)	rs1057519542
ClinGen	rs1057519542
ebi	rs1057519542
HLI	rs1057519542
Exac	rs1057519542
Gnomad	rs1057519542
Varsome	rs1057519542
LitVar	rs1057519542
Map	rs1057519542
PheGenI	rs1057519542
Biobank	rs1057519542
1000 genomes	rs1057519542
hgdp	rs1057519542
ensembl	rs1057519542
geneview	rs1057519542
scholar	rs1057519542
google	rs1057519542
pharmgkb	rs1057519542
gwascentral	rs1057519542
openSNP	rs1057519542
23andMe	rs1057519542
SNPshot	rs1057519542
SNPdbe	rs1057519542
MSV3d	rs1057519542
GWAS Ctlg	rs1057519542

Max Magnitude

0

ClinVar
Risk	rs1057519542(GACC;GACC)
Alt	rs1057519542(GACC;GACC)
Reference	Rs1057519542(-;-)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	CDKL5
CLNDBN	Epileptic encephalopathy
Reversed	0
HGVS	NC_000023.10:g.18622493_18622496dupGACC
CLNSRC
CLNACC	RCV000417015.1,