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: rs398123575
rs398123575
EYS
2 1.000 0.080 6 63864319 stop gained A/C snv 1.9E-05 4.2E-05 0.700 1.000 1 2010 2010
dbSNP: rs527236067
rs527236067
PHF3 ; EYS
1 1.000 0.080 6 63721226 stop gained G/T snv 3.2E-05 2.1E-05 0.710 1.000 1 2012 2012
dbSNP: rs527236076
rs527236076
PHF3 ; EYS
1 1.000 0.080 6 63762520 stop gained A/T snv 1.3E-05 0.710 1.000 1 2019 2019
dbSNP: rs760798455
rs760798455
EYS
1 1.000 0.080 6 64912505 stop gained G/A snv 3.8E-05 5.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs779983752
rs779983752
PHF3 ; EYS
1 1.000 0.080 6 63726641 stop gained A/C snv 3.9E-05 2.8E-05 0.700 1.000 1 2018 2018
dbSNP: rs794727631
rs794727631
EYS
2 0.925 0.080 6 65494921 stop gained G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs930421180
rs930421180
EYS
1 1.000 0.080 6 64591822 stop gained G/A snv 7.0E-06 0.700 1.000 1 2013 2013
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: rs1291867456
rs1291867456
EYS
1 1.000 0.080 6 64593219 stop gained G/A;T snv 7.0E-06 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: rs1554183432
rs1554183432
EYS
1 1.000 0.080 6 64590459 stop gained G/C snv 0.700 0
dbSNP: rs1554183440
rs1554183440
EYS
1 1.000 0.080 6 64590525 stop gained ACTGAGCCTGTCAATGGTGGCAGATT/TA delins 0.700 0
dbSNP: rs1554194404
rs1554194404
EYS ; LOC107986608
1 1.000 0.080 6 63984501 stop gained G/A snv 0.700 0
dbSNP: rs1554204963
rs1554204963
EYS
1 1.000 0.080 6 64081925 stop gained C/A snv 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: rs527236072
rs527236072
EYS
1 1.000 0.080 6 65334996 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs527236074
rs527236074
EYS
1 1.000 0.080 6 64590853 stop gained G/A snv 0.700 0
dbSNP: rs527236077
rs527236077
EYS
1 1.000 0.080 6 65353572 stop gained T/A snv 0.700 0
dbSNP: rs878853350
rs878853350
EYS
2 1.000 0.080 6 64307024 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs111991705
rs111991705
PHF3 ; EYS
1 1.000 0.080 6 63721609 missense variant C/T snv 5.1E-03 7.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs1311193836
rs1311193836
EYS
1 1.000 0.080 6 63789144 missense variant C/G snv 4.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs373203896
rs373203896
PHF3 ; EYS
1 1.000 0.080 6 63721252 missense variant A/G snv 3.8E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs749909863
rs749909863
EYS
2 0.925 0.080 6 64230600 missense variant C/T snv 1.4E-04 7.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs112822256
rs112822256
EYS
1 1.000 0.080 6 65405253 missense variant C/T snv 1.8E-03 3.7E-03 0.700 0
dbSNP: rs527236064
rs527236064
PHF3 ; EYS
1 1.000 0.080 6 63778111 missense variant C/T snv 0.700 0