rs104894932

Orientation

plus

Stabilized

plus

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

Make rs104894932(C;G)

Make rs104894932(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18647301

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs104894932
dbSNP (classic)	rs104894932
ClinGen	rs104894932
ebi	rs104894932
HLI	rs104894932
Exac	rs104894932
Gnomad	rs104894932
Varsome	rs104894932
LitVar	rs104894932
Map	rs104894932
PheGenI	rs104894932
Biobank	rs104894932
1000 genomes	rs104894932
hgdp	rs104894932
ensembl	rs104894932
geneview	rs104894932
scholar	rs104894932
google	rs104894932
pharmgkb	rs104894932
gwascentral	rs104894932
openSNP	rs104894932
23andMe	rs104894932
SNPshot	rs104894932
SNPdbe	rs104894932
MSV3d	rs104894932
GWAS Ctlg	rs104894932

Max Magnitude

0

OMIM	312700
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894932(G;G) rs104894932(T;T)
Alt	rs104894932(G;G) rs104894932(T;T)
Reference	Rs104894932(C;C)
Significance	Pathogenic
Disease	Juvenile retinoschisis not provided
Variation	info
Gene	CDKL5 RS1
CLNDBN	Juvenile retinoschisis not provided
Reversed	0
HGVS	NC_000023.10:g.18665421C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010567.3, RCV000085251.1,