rs61752063

Orientation

plus

Stabilized

plus

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

Make rs61752063(A;G)

Make rs61752063(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

18647231

Gene	CDKL5, RS1

is a	snp
is	mentioned by
dbSNP	rs61752063
dbSNP (classic)	rs61752063
ClinGen	rs61752063
ebi	rs61752063
HLI	rs61752063
Exac	rs61752063
Gnomad	rs61752063
Varsome	rs61752063
LitVar	rs61752063
Map	rs61752063
PheGenI	rs61752063
Biobank	rs61752063
1000 genomes	rs61752063
hgdp	rs61752063
ensembl	rs61752063
geneview	rs61752063
scholar	rs61752063
google	rs61752063
pharmgkb	rs61752063
gwascentral	rs61752063
openSNP	rs61752063
23andMe	rs61752063
SNPshot	rs61752063
SNPdbe	rs61752063
MSV3d	rs61752063
GWAS Ctlg	rs61752063

Max Magnitude

0

OMIM	312700
Desc
Variant	0001
Related	also

ClinVar
Risk	rs61752063(G;G)
Alt	rs61752063(G;G)
Reference	Rs61752063(A;A)
Significance	Pathogenic
Disease	Juvenile retinoschisis not provided
Variation	info
Gene	CDKL5 RS1
CLNDBN	Juvenile retinoschisis not provided
Reversed	0
HGVS	NC_000023.10:g.18665351A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010564.5, RCV000085262.2,