rs1057518759

Orientation

plus

Stabilized

plus

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

Make rs1057518759(-;GC)

Make rs1057518759(GC;GC)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

18604396

Gene

CDKL5

is a	snp
is	mentioned by
dbSNP	rs1057518759
dbSNP (classic)	rs1057518759
ClinGen	rs1057518759
ebi	rs1057518759
HLI	rs1057518759
Exac	rs1057518759
Gnomad	rs1057518759
Varsome	rs1057518759
LitVar	rs1057518759
Map	rs1057518759
PheGenI	rs1057518759
Biobank	rs1057518759
1000 genomes	rs1057518759
hgdp	rs1057518759
ensembl	rs1057518759
geneview	rs1057518759
scholar	rs1057518759
google	rs1057518759
pharmgkb	rs1057518759
gwascentral	rs1057518759
openSNP	rs1057518759
23andMe	rs1057518759
SNPshot	rs1057518759
SNPdbe	rs1057518759
MSV3d	rs1057518759
GWAS Ctlg	rs1057518759

Max Magnitude

0

ClinVar
Risk	rs1057518759(GC;GC)
Alt	rs1057518759(GC;GC)
Reference	Rs1057518759(-;-)
Significance	Probable-Pathogenic
Disease	Developmental delay Epileptic encephalopathy
Variation	info
Gene	CDKL5
CLNDBN	Developmental delay Epileptic encephalopathy
Reversed	0
HGVS	NC_000023.10:g.18622515_18622516dupGC
CLNSRC
CLNACC	RCV000415357.1,