rs104894928

Orientation

plus

Stabilized

plus

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

Make rs104894928(C;T)

Make rs104894928(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18647303

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs104894928
dbSNP (classic)	rs104894928
ClinGen	rs104894928
ebi	rs104894928
HLI	rs104894928
Exac	rs104894928
Gnomad	rs104894928
Varsome	rs104894928
LitVar	rs104894928
Map	rs104894928
PheGenI	rs104894928
Biobank	rs104894928
1000 genomes	rs104894928
hgdp	rs104894928
ensembl	rs104894928
geneview	rs104894928
scholar	rs104894928
google	rs104894928
pharmgkb	rs104894928
gwascentral	rs104894928
openSNP	rs104894928
23andMe	rs104894928
SNPshot	rs104894928
SNPdbe	rs104894928
MSV3d	rs104894928
GWAS Ctlg	rs104894928

Max Magnitude

0

OMIM	312700
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894928(G;G) rs104894928(T;T)
Alt	rs104894928(G;G) rs104894928(T;T)
Reference	Rs104894928(C;C)
Significance	Pathogenic
Disease	not provided Juvenile retinoschisis
Variation	info
Gene	CDKL5 RS1
CLNDBN	not provided Juvenile retinoschisis
Reversed	0
HGVS	NC_000023.10:g.18665423C>G; NC_000023.10:g.18665423C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000085250.1, RCV000010566.7, RCV000085249.1,