Gene: EYS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527236067
rs527236067
PHF3 ; EYS
0.710 GeneticVariation BEFREE Screening for c.4957_4958insA and c.8868C>A mutations in the EYS gene may therefore be very effective for the genetic testing and counseling of RP patients in Japan. 22363543

2012
dbSNP: rs527236068
rs527236068
EYS
T 0.700 CausalMutation CLINVAR

dbSNP: rs527236069
rs527236069
EYS ; LOC107986608
C 0.700 GeneticVariation CLINVAR

dbSNP: rs527236070
rs527236070
PHF3 ; EYS
CTGCA 0.700 GeneticVariation CLINVAR

dbSNP: rs527236071
rs527236071
EYS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236072
rs527236072
EYS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236073
rs527236073
EYS
TCCTCTTGA 0.700 GeneticVariation CLINVAR

dbSNP: rs527236074
rs527236074
EYS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236075
rs527236075
EYS
C 0.700 GeneticVariation CLINVAR

dbSNP: rs527236076
rs527236076
PHF3 ; EYS
T 0.710 GeneticVariation CLINVAR

dbSNP: rs527236076
rs527236076
PHF3 ; EYS
0.710 GeneticVariation BEFREE One novel (c.7492G>C:p.Ala2498Pro and c.8422C>T:p.Ala2808Thr) and one reported (c.8012T>A:p.Leu2671X and 6416G>A:p.Cys2139Tyr) pair of compound heterozygous mutations, as well as one reported compound homozygous mutation (c.6416G>A:p.Cys2139Tyr/c.8012T>A:p.Leu2671X), were identified in the <i>EYS</i> gene from three families with autosomal recessive RP. 30804660

2019
dbSNP: rs527236077
rs527236077
EYS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236078
rs527236078
EYS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs528919874
rs528919874
PHF3 ; EYS
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs749909863
rs749909863
EYS
0.010 GeneticVariation BEFREE One novel (c.7492G>C:p.Ala2498Pro and c.8422C>T:p.Ala2808Thr) and one reported (c.8012T>A:p.Leu2671X and 6416G>A</span>:p.Cys2139Tyr) pair of compound heterozygous mutations, as well as one reported compound homozygous mutation (c.6416G>A:p.Cys2139Tyr/c.8012T>A:p.Leu2671X), were identified in the <i>EYS</i> gene from three families with autosomal recessive RP. 30804660

2019
dbSNP: rs752736741
rs752736741
EYS
T 0.700 CausalMutation CLINVAR

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 Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. 21069908

2010
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 Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. 18976725

2008
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: rs760798455
rs760798455
EYS
A 0.700 CausalMutation CLINVAR Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations. 25491159

2015
dbSNP: rs761238771
rs761238771
EYS
C 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs764229134
rs764229134
PHF3 ; EYS
A 0.700 CausalMutation CLINVAR

dbSNP: rs770111708
rs770111708
EYS
T 0.700 GeneticVariation CLINVAR