Gene: EYS ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527236076
rs527236076
PHF3 ; EYS
T 0.710 GeneticVariation CLINVAR

dbSNP: rs112822256
rs112822256
EYS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1291867456
rs1291867456
EYS
A 0.700 GeneticVariation CLINVAR

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

2019
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: rs527236077
rs527236077
EYS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236078
rs527236078
EYS
A 0.700 GeneticVariation 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 Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. 25268133

2014