rs61752067

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	normal

Make rs61752067(A;A)

Make rs61752067(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18647213

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs61752067
dbSNP (classic)	rs61752067
ClinGen	rs61752067
ebi	rs61752067
HLI	rs61752067
Exac	rs61752067
Gnomad	rs61752067
Varsome	rs61752067
LitVar	rs61752067
Map	rs61752067
PheGenI	rs61752067
Biobank	rs61752067
1000 genomes	rs61752067
hgdp	rs61752067
ensembl	rs61752067
geneview	rs61752067
scholar	rs61752067
google	rs61752067
pharmgkb	rs61752067
gwascentral	rs61752067
openSNP	rs61752067
23andMe	rs61752067
SNPshot	rs61752067
SNPdbe	rs61752067
MSV3d	rs61752067
GWAS Ctlg	rs61752067

Max Magnitude

0

OMIM	312700
Desc
Variant	0002
Related	also

ClinVar
Risk	rs61752067(A;A)
Alt	rs61752067(A;A)
Reference	Rs61752067(G;G)
Significance	Pathogenic
Disease	Juvenile retinoschisis not provided Retinal dystrophy
Variation	info
Gene	CDKL5 RS1
CLNDBN	Juvenile retinoschisis not provided Retinal dystrophy
Reversed	0
HGVS	NC_000023.10:g.18665333G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010565.5, RCV000085268.2, RCV000210291.1,