Source: BEFREE ×
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
4 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.720 1.000 2 2012 2018
dbSNP: rs61750168
rs61750168
GUCY2D
1 0.851 0.080 17 8013918 missense variant C/G;T snv 4.0E-06; 1.5E-04 0.710 1.000 1 2018 2019
dbSNP: rs62636275
rs62636275
CRB1
2 0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05 0.710 1.000 1 2006 2006
dbSNP: rs104894673
rs104894673
CRX
7 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
1 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: rs104894465
rs104894465
OTX2
1 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
1 0.925 0.040 14 67727097 stop gained C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs104894474
rs104894474
GPHN ; RDH12
1 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
1 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: rs121917744
rs121917744
RPE65
2 0.851 0.080 1 68438228 missense variant G/A;T snv 1.6E-05 0.010 1.000 1 2006 2006
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
3 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: rs61749675
rs61749675
GUCY2D
2 0.882 0.080 17 8004104 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs61750130
rs61750130
ABCA4
1 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: rs61752871
rs61752871
RPE65
3 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: rs62636281
rs62636281
CRB1
1 0.925 0.040 1 197442236 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs62636299
rs62636299
RPE65
3 0.882 0.040 1 68431371 missense variant C/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs760544654
rs760544654
CRB1
1 1.000 0.040 1 197442278 missense variant C/T snv 2.0E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs763325435
rs763325435
NMNAT1
1 0.925 0.040 1 9975672 missense variant C/T snv 4.0E-06; 8.4E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs776291294
rs776291294
SLC7A14 ; SLC7A14-AS1
3 0.882 0.080 3 170480312 missense variant C/T snv 1.5E-05 2.1E-05 0.010 1.000 1 2019 2019