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: rs758109813
rs758109813
EYS ; LOC107986608
1 1.000 0.080 6 63999115 frameshift variant G/- delins 1.8E-04 7.0E-04 0.700 1.000 3 2010 2015
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: rs752953889
rs752953889
EYS
2 0.925 0.080 6 64066349 frameshift variant A/- del 2.8E-05 0.700 1.000 2 2008 2011
dbSNP: rs770748359
rs770748359
PHF3 ; EYS
2 0.925 0.080 6 63720736 frameshift variant GATATTTACC/- delins 1.7E-04 1.3E-04 0.700 1.000 2 2014 2015
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 2010 2010
dbSNP: rs751629543
rs751629543
PHF3 ; EYS
2 0.925 0.080 6 63726615 frameshift variant AGGAA/- delins 2.8E-05 0.700 1.000 1 2015 2015
dbSNP: rs764229134
rs764229134
PHF3 ; EYS
2 0.925 0.080 6 63726596 frameshift variant GT/- delins 0.700 1.000 1 2010 2010
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: rs1165454778
rs1165454778
PHF3 ; EYS
1 1.000 0.080 6 63720864 frameshift variant TA/- delins 1.4E-05 0.700 0
dbSNP: rs1168101857
rs1168101857
PHF3 ; EYS
2 0.925 0.080 6 63726584 frameshift variant T/- del 1.3E-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: rs1318739667
rs1318739667
EYS
1 1.000 0.080 6 64593295 frameshift variant C/- delins 1.3E-05 0.700 0
dbSNP: rs1326370032
rs1326370032
PHF3 ; EYS
2 0.925 0.080 6 63720695 frameshift variant AATTTTGCCAACAAAATTGG/- del 6.5E-06 2.8E-05 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: rs1427770112
rs1427770112
PHF3 ; EYS
1 1.000 0.080 6 63720949 frameshift variant TTCT/- delins 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