rs199469696

Orientation

minus

Stabilized

minus

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

Make rs199469696(C;T)

Make rs199469696(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18644603

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs199469696
dbSNP (classic)	rs199469696
ClinGen	rs199469696
ebi	rs199469696
HLI	rs199469696
Exac	rs199469696
Gnomad	rs199469696
Varsome	rs199469696
LitVar	rs199469696
Map	rs199469696
PheGenI	rs199469696
Biobank	rs199469696
1000 genomes	rs199469696
hgdp	rs199469696
ensembl	rs199469696
geneview	rs199469696
scholar	rs199469696
google	rs199469696
pharmgkb	rs199469696
gwascentral	rs199469696
openSNP	rs199469696
23andMe	rs199469696
SNPshot	rs199469696
SNPdbe	rs199469696
MSV3d	rs199469696
GWAS Ctlg	rs199469696

Max Magnitude

0

ClinVar
Risk	rs199469696(T;T)
Alt	rs199469696(T;T)
Reference	Rs199469696(C;C)
Significance	Untested
Disease	Juvenile retinoschisis Macular schisis Peripheral schisis
Variation	info
Gene	CDKL5 RS1
CLNDBN	Juvenile retinoschisis Macular schisis Peripheral schisis
Reversed	1
HGVS	NC_000023.10:g.18662723G>A
CLNSRC	ClinVar
CLNACC	RCV000058876.1,