rs104894934

Orientation

plus

Stabilized

plus

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

Make rs104894934(C;G)

Make rs104894934(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18647192

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs104894934
dbSNP (classic)	rs104894934
ClinGen	rs104894934
ebi	rs104894934
HLI	rs104894934
Exac	rs104894934
Gnomad	rs104894934
Varsome	rs104894934
LitVar	rs104894934
Map	rs104894934
PheGenI	rs104894934
Biobank	rs104894934
1000 genomes	rs104894934
hgdp	rs104894934
ensembl	rs104894934
geneview	rs104894934
scholar	rs104894934
google	rs104894934
pharmgkb	rs104894934
gwascentral	rs104894934
openSNP	rs104894934
23andMe	rs104894934
SNPshot	rs104894934
SNPdbe	rs104894934
MSV3d	rs104894934
GWAS Ctlg	rs104894934

Max Magnitude

0

OMIM	312700
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894934(A;A) rs104894934(G;G)
Alt	rs104894934(A;A) rs104894934(G;G)
Reference	Rs104894934(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.18665312C>A; NC_000023.10:g.18665312C>G
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000085275.1, RCV000010569.3, RCV000085274.2,