rs104894929

Orientation

plus

Stabilized

plus

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

Make rs104894929(A;G)

Make rs104894929(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18642012

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs104894929
dbSNP (classic)	rs104894929
ClinGen	rs104894929
ebi	rs104894929
HLI	rs104894929
Exac	rs104894929
Gnomad	rs104894929
Varsome	rs104894929
LitVar	rs104894929
Map	rs104894929
PheGenI	rs104894929
Biobank	rs104894929
1000 genomes	rs104894929
hgdp	rs104894929
ensembl	rs104894929
geneview	rs104894929
scholar	rs104894929
google	rs104894929
pharmgkb	rs104894929
gwascentral	rs104894929
openSNP	rs104894929
23andMe	rs104894929
SNPshot	rs104894929
SNPdbe	rs104894929
MSV3d	rs104894929
GWAS Ctlg	rs104894929

Max Magnitude

0

OMIM	312700
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894929(G;G)
Alt	rs104894929(G;G)
Reference	Rs104894929(A;A)
Significance	Pathogenic
Disease	Juvenile retinoschisis
Variation	info
Gene	CDKL5 RS1
CLNDBN	Juvenile retinoschisis
Reversed	0
HGVS	NC_000023.10:g.18660132A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010571.3,