Gene: EYS ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs527236068
rs527236068
EYS
2 0.925 0.080 6 64081870 missense variant C/G;T snv 4.0E-05 0.700 0
dbSNP: rs770111708
rs770111708
EYS
1 1.000 0.080 6 64230693 missense variant C/T snv 2.0E-05 4.2E-05 0.700 0
dbSNP: rs777735735
rs777735735
EYS
1 1.000 0.080 6 64081954 missense variant A/G snv 3.3E-05 4.9E-05 0.700 0
dbSNP: rs199740930
rs199740930
EYS
2 0.925 0.080 6 65057613 splice donor variant C/T snv 7.4E-04 3.4E-04 0.700 1.000 1 2019 2019
dbSNP: rs752736741
rs752736741
EYS
2 0.925 0.080 6 64997581 splice donor variant C/T snv 3.8E-05 2.1E-05 0.700 0
dbSNP: rs752953889
rs752953889
EYS
2 0.925 0.080 6 64066349 frameshift variant A/- del 2.8E-05 0.700 1.000 5 2008 2019
dbSNP: rs1326370032
rs1326370032
PHF3 ; EYS
2 0.925 0.080 6 63720695 frameshift variant AATTTTGCCAACAAAATTGG/- del 6.5E-06 2.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs527236065
rs527236065
EYS
1 1.000 0.080 6 64590909 frameshift variant -/T delins 6.6E-06 0.700 1.000 1 2019 2019
dbSNP: rs528919874
rs528919874
PHF3 ; EYS
2 0.925 0.080 6 63721376 frameshift variant CTGCATGT/- delins 7.5E-04 6.7E-04 0.700 1.000 1 2019 2019
dbSNP: rs761238771
rs761238771
EYS
2 0.925 0.080 6 64591511 frameshift variant TATAAGC/- delins 7.8E-05 1.0E-04 0.700 1.000 1 2019 2019
dbSNP: rs886044304
rs886044304
EYS
1 1.000 0.080 6 64591035 frameshift variant AATG/- delins 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1168101857
rs1168101857
PHF3 ; EYS
2 0.925 0.080 6 63726584 frameshift variant T/- del 1.3E-05 0.700 0
dbSNP: rs1346842287
rs1346842287
EYS
1 1.000 0.080 6 64081882 frameshift variant T/- delins 0.700 0
dbSNP: rs1554163929
rs1554163929
PHF3 ; EYS
1 1.000 0.080 6 63721353 frameshift variant T/- delins 0.700 0
dbSNP: rs527236069
rs527236069
EYS ; LOC107986608
1 1.000 0.080 6 63984390 frameshift variant A/- del 0.700 0
dbSNP: rs527236070
rs527236070
PHF3 ; EYS
1 1.000 0.080 6 63721651 frameshift variant -/TGCA delins 0.700 0
dbSNP: rs527236071
rs527236071
EYS
1 1.000 0.080 6 64590664 frameshift variant CA/- delins 0.700 0
dbSNP: rs527236073
rs527236073
EYS
1 1.000 0.080 6 64591464 frameshift variant -/CCTCTTGA delins 0.700 0
dbSNP: rs527236075
rs527236075
EYS
1 1.000 0.080 6 64591480 frameshift variant T/- del 0.700 0
dbSNP: rs527236078
rs527236078
EYS
1 1.000 0.080 6 63788134 frameshift variant T/- delins 0.700 0
dbSNP: rs764229134
rs764229134
PHF3 ; EYS
2 0.925 0.080 6 63726596 frameshift variant GT/- delins 0.700 0
dbSNP: rs770748359
rs770748359
PHF3 ; EYS
2 0.925 0.080 6 63720736 frameshift variant GATATTTACC/- delins 1.7E-04 1.3E-04 0.700 0
dbSNP: rs181169439
rs181169439
EYS
2 0.925 0.080 6 64388842 splice acceptor variant T/C snv 2.6E-05 7.7E-05 0.700 1.000 1 2011 2011
dbSNP: rs1554152094
rs1554152094
EYS
1 1.000 0.080 6 64388841 splice acceptor variant CTG/- del 0.700 0