rs104894930

Orientation

plus

Stabilized

plus

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

Make rs104894930(A;A)

Make rs104894930(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18642071

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs104894930
dbSNP (classic)	rs104894930
ClinGen	rs104894930
ebi	rs104894930
HLI	rs104894930
Exac	rs104894930
Gnomad	rs104894930
Varsome	rs104894930
LitVar	rs104894930
Map	rs104894930
PheGenI	rs104894930
Biobank	rs104894930
1000 genomes	rs104894930
hgdp	rs104894930
ensembl	rs104894930
geneview	rs104894930
scholar	rs104894930
google	rs104894930
pharmgkb	rs104894930
gwascentral	rs104894930
openSNP	rs104894930
23andMe	rs104894930
SNPshot	rs104894930
SNPdbe	rs104894930
MSV3d	rs104894930
GWAS Ctlg	rs104894930

Max Magnitude

0

OMIM	312700
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894930(A;A)
Alt	rs104894930(A;A)
Reference	Rs104894930(G;G)
Significance	Pathogenic
Disease	Juvenile retinoschisis not provided
Variation	info
Gene	CDKL5 RS1
CLNDBN	Juvenile retinoschisis not provided
Reversed	0
HGVS	NC_000023.10:g.18660191G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010573.6, RCV000085344.1,