rs104894933

Orientation

plus

Stabilized

plus

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

Make rs104894933(A;A)

Make rs104894933(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18647296

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs104894933
dbSNP (classic)	rs104894933
ClinGen	rs104894933
ebi	rs104894933
HLI	rs104894933
Exac	rs104894933
Gnomad	rs104894933
Varsome	rs104894933
LitVar	rs104894933
Map	rs104894933
PheGenI	rs104894933
Biobank	rs104894933
1000 genomes	rs104894933
hgdp	rs104894933
ensembl	rs104894933
geneview	rs104894933
scholar	rs104894933
google	rs104894933
pharmgkb	rs104894933
gwascentral	rs104894933
openSNP	rs104894933
23andMe	rs104894933
SNPshot	rs104894933
SNPdbe	rs104894933
MSV3d	rs104894933
GWAS Ctlg	rs104894933

Max Magnitude

0

OMIM	312700
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894933(A;A)
Alt	rs104894933(A;A)
Reference	Rs104894933(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.18665416C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010568.2, RCV000085254.1,