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: 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: rs104894470
rs104894470
GPHN ; RDH12
2 0.925 0.040 14 67727097 stop gained C/T snv 0.010 1.000 1 2007 2007
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: 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: 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: rs62636281
rs62636281
CRB1
2 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
4 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
2 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: rs766143193
rs766143193
LCA5 ; LOC100506851
1 1.000 0.040 6 79487422 stop gained G/A;T snv 3.2E-05 0.700 1.000 1 2013 2013
dbSNP: rs781781440
rs781781440
CDHR1
2 0.925 0.040 10 84200685 frameshift variant -/A delins 8.4E-06; 4.2E-06 2.1E-05 0.700 1.000 1 2019 2019
dbSNP: rs866395428
rs866395428
LCA5
3 1.000 0.040 6 79493633 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs869312175
rs869312175
CRX
1 1.000 0.040 19 47839715 frameshift variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs1057518122
rs1057518122
RPGRIP1
1 1.000 0.040 14 21334710 splice region variant G/A snv 8.8E-06 0.700 0
dbSNP: rs116733939
rs116733939
GPHN ; RDH12
2 0.925 0.040 14 67727056 missense variant C/T snv 1.6E-05 3.5E-05 0.700 0
dbSNP: rs1191496583
rs1191496583
RPE65
1 1.000 0.040 1 68444607 missense variant C/T snv 1.6E-05 1.3E-04 0.700 0
dbSNP: rs121918165
rs121918165
LCA5
2 0.925 0.040 6 79493636 stop gained G/A snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs121918844
rs121918844
RPE65
1 1.000 0.040 1 68444665 frameshift variant A/-;AA delins 4.0E-06 0.700 0
dbSNP: rs1420672586
rs1420672586
RPE65
1 1.000 0.040 1 68431282 missense variant C/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs142326926
rs142326926
AIPL1
1 1.000 0.040 17 6426615 missense variant C/T snv 3.2E-05 4.9E-05 0.700 0
dbSNP: rs1429137932
rs1429137932
RPE65
1 1.000 0.040 1 68446713 missense variant C/A snv 4.8E-05 8.4E-05 0.700 0
dbSNP: rs150412614
rs150412614
CRB1
1 1.000 0.040 1 197427555 stop gained C/A;G;T snv 5.6E-04; 8.0E-06; 1.2E-05 0.700 0