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: rs150726175
rs150726175
NMNAT1
11 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.720 1.000 7 2012 2018
dbSNP: rs104894673
rs104894673
CRX
8 0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05 0.030 1.000 3 1999 2019
dbSNP: rs121917745
rs121917745
RPE65
4 0.851 0.080 1 68429835 missense variant G/A snv 8.0E-06 2.8E-05 0.020 1.000 2 2004 2015
dbSNP: rs61750168
rs61750168
GUCY2D
4 0.851 0.080 17 8013918 missense variant C/G;T snv 4.0E-06; 1.5E-04 0.710 1.000 2 2018 2019
dbSNP: rs62637014
rs62637014
AIPL1
2 0.925 0.040 17 6425781 stop gained C/T snv 3.3E-04 3.8E-04 0.700 1.000 2 2000 2019
dbSNP: rs104894465
rs104894465
OTX2
2 0.925 0.080 14 56802068 stop gained A/G;T snv 2.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs104894470
rs104894470
GPHN ; RDH12
2 0.925 0.040 14 67727097 stop gained C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs104894474
rs104894474
GPHN ; RDH12
3 0.882 0.080 14 67726086 stop gained G/T snv 0.010 1.000 1 2007 2007
dbSNP: rs104894671
rs104894671
CRX
4 0.851 0.080 19 47836381 missense variant A/C snv 0.010 1.000 1 2000 2000
dbSNP: rs1051367143
rs1051367143
IMPDH1
1 1.000 0.040 7 128400124 missense variant G/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs119489105
rs119489105
MERTK
2 0.925 0.040 2 112008466 stop gained C/T snv 5.6E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs121908449
rs121908449
RGS9
2 1.000 0.040 17 65197160 missense variant T/C snv 1.2E-04 1.8E-04 0.700 1.000 1 2019 2019
dbSNP: rs121917744
rs121917744
RPE65
4 0.851 0.080 1 68438228 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs137853124
rs137853124
RPGRIP1
2 0.925 0.040 14 21294785 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1400815962
rs1400815962
RPE65
2 0.925 0.040 1 68431369 missense variant C/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2276717
rs2276717
SLC7A14 ; SLC7A14-AS1
4 0.851 0.080 3 170483441 missense variant C/T snv 1.7E-03 5.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs386834152
rs386834152
CEP290
7 0.790 0.280 12 88114488 stop gained G/A snv 5.1E-05 4.9E-05 0.700 1.000 1 2019 2019
dbSNP: rs387907009
rs387907009
IQCB1
3 0.882 0.200 3 121790166 stop gained C/A snv 1.2E-05 0.700 1.000 1 2011 2011
dbSNP: rs61749423
rs61749423
ABCA4
3 0.925 0.040 1 94060656 stop gained G/A;T snv 8.0E-06; 4.4E-05 0.700 1.000 1 1999 1999
dbSNP: rs61749675
rs61749675
GUCY2D
3 0.882 0.080 17 8004104 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs61750130
rs61750130
ABCA4
7 0.807 0.080 1 94031110 missense variant G/A snv 2.4E-04 2.3E-04 0.010 < 0.001 1 2014 2014
dbSNP: rs61751404
rs61751404
ABCA4
4 0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs61752871
rs61752871
RPE65
6 0.827 0.080 1 68444858 missense variant G/A snv 5.6E-05 6.3E-05 0.010 1.000 1 2015 2015
dbSNP: rs62635288
rs62635288
CEP290 ; TMTC3
3 0.882 0.240 12 88141287 missense variant C/A snv 0.700 1.000 1 2006 2006
dbSNP: rs62636275
rs62636275
CRB1
4 0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05 0.710 1.000 1 2006 2006