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: rs142450703
rs142450703
EYS
1 1.000 0.080 6 65296034 missense variant C/T snv 1.1E-04 4.2E-04 0.700 1.000 5 2008 2010
dbSNP: rs201652272
rs201652272
EYS
1 1.000 0.080 6 64997607 missense variant T/C snv 8.3E-04 6.5E-04 0.700 1.000 5 2008 2010
dbSNP: rs535663619
rs535663619
EYS
1 1.000 0.080 6 64590627 missense variant T/C;G snv 1.8E-04; 6.5E-06 0.700 1.000 5 2008 2010
dbSNP: rs749909863
rs749909863
EYS
2 0.925 0.080 6 64230600 missense variant C/T snv 1.4E-04 7.0E-05 0.700 1.000 5 2008 2010
dbSNP: rs75831552
rs75831552
EYS
1 1.000 0.080 6 64590823 missense variant C/A snv 2.3E-03 1.0E-02 0.700 1.000 5 2008 2010
dbSNP: rs768964978
rs768964978
EYS
1 1.000 0.080 6 63789129 missense variant C/T snv 1.6E-04 9.8E-05 0.700 1.000 5 2008 2010
dbSNP: rs137853190
rs137853190
PHF3 ; EYS
2 0.925 0.080 6 63720626 stop gained A/T snv 1.6E-05 0.700 1.000 2 2008 2010
dbSNP: rs143994166
rs143994166
EYS
2 1.000 0.080 6 65402507 stop gained A/T snv 6.8E-04 6.2E-04 0.700 1.000 2 2016 2017
dbSNP: rs373441420
rs373441420
EYS
1 1.000 0.080 6 64813377 splice donor variant C/A;T snv 2.0E-05; 1.4E-05 0.700 1.000 2 2014 2015
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 1.000 2 2015 2016
dbSNP: rs1060499783
rs1060499783
EYS ; LOC107986608
2 0.925 0.080 6 63984462 stop gained G/A snv 2.5E-05 1.4E-05 0.700 0
dbSNP: rs1260400598
rs1260400598
EYS
1 1.000 0.080 6 64591417 missense variant A/G snv 6.5E-06 7.0E-06 0.700 0
dbSNP: rs137853189
rs137853189
EYS
1 1.000 0.080 6 64436244 stop gained C/A snv 7.0E-06 0.700 0
dbSNP: rs143327210
rs143327210
EYS
1 1.000 0.080 6 64813492 missense variant G/C snv 5.1E-04 2.2E-03 0.700 0
dbSNP: rs1471994744
rs1471994744
EYS
2 0.925 0.080 6 65353609 stop gained G/T snv 7.0E-06 0.700 0
dbSNP: rs1554171033
rs1554171033
EYS ; SCAT8
1 1.000 0.080 6 63806373 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1562263385
rs1562263385
EYS
1 1.000 0.080 6 64230747 stop gained C/T snv 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 0
dbSNP: rs190009374
rs190009374
EYS
1 1.000 0.080 6 64593300 missense variant T/A;C snv 1.7E-04; 1.3E-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 0
dbSNP: rs201823777
rs201823777
EYS
1 1.000 0.080 6 65335073 stop gained C/T snv 1.2E-04 1.2E-04 0.700 0
dbSNP: rs527236066
rs527236066
PHF3 ; EYS
2 0.925 0.080 6 63762613 stop gained C/T snv 2.6E-05 7.0E-06 0.700 0
dbSNP: rs749410700
rs749410700
EYS
1 1.000 0.080 6 65495308 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs752683070
rs752683070
EYS
1 1.000 0.080 6 65405349 stop gained G/C snv 2.4E-05 6.4E-05 0.700 0
dbSNP: rs794727631
rs794727631
EYS
2 0.925 0.080 6 65494921 stop gained G/A snv 8.0E-06 1.4E-05 0.700 0