Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752953889
rs752953889
EYS
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs752953889
rs752953889
EYS
T 0.700 GeneticVariation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666

2015
dbSNP: rs752953889
rs752953889
EYS
T 0.700 GeneticVariation CLINVAR Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. 25268133

2014
dbSNP: rs752953889
rs752953889
EYS
T 0.700 GeneticVariation CLINVAR Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. 21069908

2010
dbSNP: rs752953889
rs752953889
EYS
T 0.700 GeneticVariation CLINVAR Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. 18976725

2008