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: 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: 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: 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: 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: 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: 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: 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: 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: rs1168101857
rs1168101857
PHF3 ; EYS
2 0.925 0.080 6 63726584 frameshift variant T/- del 1.3E-05 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: 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: rs527236068
rs527236068
EYS
2 0.925 0.080 6 64081870 missense variant C/G;T snv 4.0E-05 0.700 0
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: 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: 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: 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: 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: 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