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: rs61751282
rs61751282
RPE65
2 0.925 0.080 1 68446824 missense variant C/T snv 4.0E-05 7.0E-06 0.800 1.000 18 1997 2017
dbSNP: rs61752908
rs61752908
RPE65
2 0.925 0.080 1 68438951 missense variant C/T snv 4.0E-06 0.800 1.000 17 1997 2017
dbSNP: rs121917744
rs121917744
RPE65
4 0.851 0.080 1 68438228 missense variant G/A;T snv 1.6E-05 0.800 1.000 15 1997 2017
dbSNP: rs61752896
rs61752896
RPE65
2 0.925 0.080 1 68439571 missense variant A/C;G snv 4.0E-06; 8.0E-06 0.800 1.000 14 1997 2017
dbSNP: rs62636300
rs62636300
RPE65
2 0.925 0.120 1 68431328 missense variant T/C snv 4.0E-06 0.800 1.000 14 1997 2017
dbSNP: rs62642584
rs62642584
RPE65
2 0.925 0.080 1 68444825 stop gained C/A;T snv 3.6E-05 0.800 1.000 14 1997 2017
dbSNP: rs281865289
rs281865289
RPE65
1 1.000 0.040 1 68439081 missense variant C/A snv 0.700 1.000 14 1997 2017
dbSNP: rs61751277
rs61751277
RPE65
1 1.000 0.040 1 68448653 missense variant A/G snv 2.8E-05 3.5E-05 0.700 1.000 14 1997 2017
dbSNP: rs61751281
rs61751281
RPE65
2 0.925 0.080 1 68446837 missense variant C/T snv 2.4E-05 2.8E-05 0.700 1.000 14 1997 2017
dbSNP: rs61752866
rs61752866
RPE65
1 1.000 0.040 1 68446753 missense variant G/A snv 4.0E-06 0.700 1.000 14 1997 2017
dbSNP: rs61752873
rs61752873
RPE65
1 1.000 0.040 1 68444857 missense variant C/G;T snv 0.700 1.000 14 1997 2017
dbSNP: rs61752880
rs61752880
RPE65
1 1.000 0.040 1 68444596 missense variant A/C snv 0.700 1.000 14 1997 2017
dbSNP: rs61752882
rs61752882
RPE65
1 1.000 0.040 1 68444582 missense variant C/A snv 0.700 1.000 14 1997 2017
dbSNP: rs61752883
rs61752883
RPE65
2 0.925 0.080 1 68440997 missense variant C/A snv 1.2E-05 7.0E-06 0.700 1.000 14 1997 2017
dbSNP: rs61752884
rs61752884
RPE65
1 1.000 0.040 1 68440952 missense variant G/A;T snv 4.0E-06 0.700 1.000 14 1997 2017
dbSNP: rs62635773
rs62635773
RPE65
1 1.000 0.040 1 68431536 missense variant G/C snv 0.700 1.000 14 1997 2017
dbSNP: rs62636299
rs62636299
RPE65
4 0.882 0.040 1 68431371 missense variant C/G snv 4.0E-06 1.4E-05 0.700 1.000 14 1997 2017
dbSNP: rs62636302
rs62636302
RPE65
1 1.000 0.040 1 68431316 missense variant T/C snv 0.700 1.000 14 1997 2017
dbSNP: rs61752871
rs61752871
RPE65
6 0.827 0.080 1 68444858 missense variant G/A snv 5.6E-05 6.3E-05 0.700 1.000 7 2000 2015
dbSNP: rs121917745
rs121917745
RPE65
4 0.851 0.080 1 68429835 missense variant G/A snv 8.0E-06 2.8E-05 0.700 1.000 6 2004 2018
dbSNP: rs61751279
rs61751279
RPE65
3 0.882 0.080 1 68446862 splice acceptor variant T/A snv 2.0E-05 1.4E-05 0.700 1.000 6 2004 2015
dbSNP: rs61752877
rs61752877
RPE65
2 0.925 0.080 1 68444656 stop gained G/A;T snv 3.6E-05; 4.0E-06 0.700 1.000 3 1998 2010
dbSNP: rs281865520
rs281865520
RPE65
2 0.925 0.080 1 68438248 frameshift variant T/-;TT delins 0.700 1.000 2 2010 2016
dbSNP: rs62642583
rs62642583
RPE65
3 0.882 0.080 1 68444818 frameshift variant AAATTCTGTTATGACGATCC/- delins 0.700 1.000 2 2000 2017
dbSNP: rs368088025
rs368088025
RPE65
3 0.882 0.080 1 68446825 stop gained G/A;T snv 2.4E-05 0.700 1.000 1 2016 2016