Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients. 28272453

2017
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. 27798099

2016
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. 20801516

2011
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330

2010
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641

2009
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer. 19849666

2009
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. 19093009

2008
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. 19093009

2008
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. 17304551

2007
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation. 17631851

2007
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. 17615541

2007
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia. 15932525

2005
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease. 16272055

2005
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. 15531314

2004
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. 10450864

1999
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis. 10079181

1999
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. 10533068

1999
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online. 10220153

1999
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. 10234514

1999
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 9618178

1998
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene. 9760195

1998
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
0.800 GeneticVariation UNIPROT Positional cloning of the gene associated with X-linked juvenile retinoschisis. 9326935

1997