rs61752068

Orientation

plus

Stabilized

plus

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

Make rs61752068(C;T)

Make rs61752068(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18647212

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs61752068
dbSNP (classic)	rs61752068
ClinGen	rs61752068
ebi	rs61752068
HLI	rs61752068
Exac	rs61752068
Gnomad	rs61752068
Varsome	rs61752068
LitVar	rs61752068
Map	rs61752068
PheGenI	rs61752068
Biobank	rs61752068
1000 genomes	rs61752068
hgdp	rs61752068
ensembl	rs61752068
geneview	rs61752068
scholar	rs61752068
google	rs61752068
pharmgkb	rs61752068
gwascentral	rs61752068
openSNP	rs61752068
23andMe	rs61752068
SNPshot	rs61752068
SNPdbe	rs61752068
MSV3d	rs61752068
GWAS Ctlg	rs61752068

Max Magnitude

0

OMIM	312700
Desc
Variant	0011
Related	also

ClinVar
Risk	rs61752068(T;T)
Alt	rs61752068(T;T)
Reference	Rs61752068(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.18665332C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010574.2, RCV000085269.1,