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: rs61752871
rs61752871
RPE65
6 0.827 0.080 1 68444858 missense variant G/A snv 5.6E-05 6.3E-05 0.800 1.000 12 1998 2015
dbSNP: rs121917745
rs121917745
RPE65
4 0.851 0.080 1 68429835 missense variant G/A snv 8.0E-06 2.8E-05 0.800 1.000 11 1998 2018
dbSNP: rs61752909
rs61752909
RPE65
2 0.925 0.080 1 68438293 missense variant A/G snv 1.4E-05 0.800 1.000 6 1998 2013
dbSNP: rs62637004
rs62637004
RPE65
1 1.000 0.080 1 68431160 missense variant A/C snv 8.0E-06 2.1E-05 0.800 1.000 6 1998 2013
dbSNP: rs62642584
rs62642584
RPE65
2 0.925 0.080 1 68444825 stop gained C/A;T snv 3.6E-05 0.800 1.000 6 1998 2013
dbSNP: rs62653011
rs62653011
RPE65
4 0.882 0.080 1 68438213 missense variant A/G snv 6.8E-05 7.7E-05 0.800 1.000 6 1998 2013
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: rs61751282
rs61751282
RPE65
2 0.925 0.080 1 68446824 missense variant C/T snv 4.0E-05 7.0E-06 0.700 1.000 6 2001 2010
dbSNP: rs61752869
rs61752869
RPE65
1 1.000 0.080 1 68446720 missense variant A/G snv 7.0E-06 0.700 1.000 6 1998 2013
dbSNP: rs61752870
rs61752870
RPE65
1 1.000 0.080 1 68444875 missense variant C/A;T snv 4.0E-06; 4.8E-05 0.700 1.000 6 1998 2013
dbSNP: rs61752874
rs61752874
RPE65
1 1.000 0.080 1 68444846 missense variant C/G;T snv 0.700 1.000 6 1998 2013
dbSNP: rs61752878
rs61752878
RPE65
1 1.000 0.080 1 68444632 missense variant C/T snv 2.9E-03 1.3E-03 0.700 1.000 6 1998 2013
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 6 1998 2013
dbSNP: rs61752896
rs61752896
RPE65
2 0.925 0.080 1 68439571 missense variant A/C;G snv 4.0E-06; 8.0E-06 0.700 1.000 6 1998 2013
dbSNP: rs61752901
rs61752901
RPE65
1 1.000 0.080 1 68439059 missense variant T/G snv 5.3E-03 2.3E-03 0.700 1.000 6 1998 2013
dbSNP: rs62637002
rs62637002
RPE65
1 1.000 0.080 1 68431313 missense variant C/A snv 0.700 1.000 6 1998 2013
dbSNP: rs62637007
rs62637007
RPE65
1 1.000 0.080 1 68431097 missense variant A/T snv 0.700 1.000 6 1998 2013
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: rs61752908
rs61752908
RPE65
2 0.925 0.080 1 68438951 missense variant C/T snv 4.0E-06 0.700 1.000 3 2005 2016
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: rs121917744
rs121917744
RPE65
4 0.851 0.080 1 68438228 missense variant G/A;T snv 1.6E-05 0.700 1.000 1 2006 2006
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
dbSNP: rs1193631220
rs1193631220
RPE65
1 1.000 0.080 1 68429795 missense variant C/A snv 0.700 0
dbSNP: rs1266217912
rs1266217912
RPE65
1 1.000 0.080 1 68446776 missense variant A/G snv 4.0E-06 0.700 0