Gene: EYS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499783
rs1060499783
EYS ; LOC107986608
A 0.700 CausalMutation CLINVAR

dbSNP: rs111991705
rs111991705
PHF3 ; 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: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: rs112822256
rs112822256
EYS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1168101857
rs1168101857
PHF3 ; EYS
C 0.700 CausalMutation CLINVAR

dbSNP: rs1291867456
rs1291867456
EYS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1311193836
rs1311193836
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: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: rs1326370032
rs1326370032
PHF3 ; EYS
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1346842287
rs1346842287
EYS
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1471994744
rs1471994744
EYS
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554152094
rs1554152094
EYS
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554163929
rs1554163929
PHF3 ; EYS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554183432
rs1554183432
EYS
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554183440
rs1554183440
EYS
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs1554194404
rs1554194404
EYS ; LOC107986608
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554204963
rs1554204963
EYS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs181169439
rs181169439
EYS
C 0.700 CausalMutation CLINVAR Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. 22164218

2011
dbSNP: rs199740930
rs199740930
EYS
T 0.700 CausalMutation CLINVAR

dbSNP: rs199740930
rs199740930
EYS
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs373203896
rs373203896
PHF3 ; EYS
G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs398123575
rs398123575
EYS
C 0.700 CausalMutation CLINVAR Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. 20537394

2010
dbSNP: rs527236064
rs527236064
PHF3 ; EYS
T 0.700 CausalMutation CLINVAR

dbSNP: rs527236065
rs527236065
EYS
CT 0.700 CausalMutation CLINVAR

dbSNP: rs527236065
rs527236065
EYS
CT 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs527236066
rs527236066
PHF3 ; EYS
T 0.700 CausalMutation CLINVAR

dbSNP: rs527236067
rs527236067
PHF3 ; EYS
T 0.710 CausalMutation CLINVAR