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: 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: rs527236064
rs527236064
PHF3 ; EYS
1 1.000 0.080 6 63778111 missense variant C/T 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: rs527236068
rs527236068
EYS
2 0.925 0.080 6 64081870 missense variant C/G;T snv 4.0E-05 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: rs527236072
rs527236072
EYS
1 1.000 0.080 6 65334996 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs527236073
rs527236073
EYS
1 1.000 0.080 6 64591464 frameshift variant -/CCTCTTGA delins 0.700 0
dbSNP: rs527236074
rs527236074
EYS
1 1.000 0.080 6 64590853 stop gained G/A snv 0.700 0
dbSNP: rs527236075
rs527236075
EYS
1 1.000 0.080 6 64591480 frameshift variant T/- del 0.700 0
dbSNP: rs527236077
rs527236077
EYS
1 1.000 0.080 6 65353572 stop gained T/A snv 0.700 0
dbSNP: rs527236078
rs527236078
EYS
1 1.000 0.080 6 63788134 frameshift variant T/- delins 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: 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: 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: 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: 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: 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