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: rs1800553
rs1800553
ABCA4
17 0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03 0.720 1.000 4 1997 2019
dbSNP: rs137853006
rs137853006
PROM1
11 0.776 0.080 4 16013299 missense variant G/A snv 0.720 1.000 3 2010 2019
dbSNP: rs139185976
rs139185976
PRPH2
3 0.882 0.080 6 42704570 missense variant C/T snv 4.8E-05 9.8E-05 0.700 1.000 2 1997 2019
dbSNP: rs1800728
rs1800728
ABCA4
8 0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04 0.700 1.000 2 2005 2019
dbSNP: rs104893968
rs104893968
GUCA1A
8 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.700 1.000 1 2019 2019
dbSNP: rs201471607
rs201471607
ABCA4
7 0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05 0.700 1.000 1 2019 2019
dbSNP: rs267606875
rs267606875
IMPG2
2 0.925 0.040 3 101242820 stop gained G/A snv 1.2E-05 2.1E-05 0.700 1.000 1 2019 2019
dbSNP: rs281865239
rs281865239
BEST1 ; LOC107984334
3 0.882 0.080 11 61957403 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs281865255
rs281865255
BEST1 ; LOC107984334
2 0.925 0.080 11 61959517 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs61750641
rs61750641
ABCA4
7 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 0.700 1.000 1 2019 2019
dbSNP: rs61751374
rs61751374
ABCA4
10 0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs61751392
rs61751392
ABCA4
7 0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04 0.700 1.000 1 2019 2019
dbSNP: rs61751402
rs61751402
ABCA4
4 0.882 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs61755793
rs61755793
PRPH2
6 0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs61755814
rs61755814
PRPH2
1 1.000 0.040 6 42704478 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs62625014
rs62625014
CNGA1 ; NIPAL1 ; LOC101927157
4 0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs62645944
rs62645944
ABCA4
7 0.807 0.080 1 94098794 splice region variant C/A snv 8.8E-05 6.3E-05 0.700 1.000 1 2019 2019
dbSNP: rs768435443
rs768435443
ABCA4
8 0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs778234759
rs778234759
ABCA4
3 0.925 0.040 1 94018445 intron variant C/T snv 1.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 1 2019 2019
dbSNP: rs868349465
rs868349465
EYS
4 0.851 0.080 6 64388718 missense variant C/A;T snv 2.7E-05; 1.4E-05; 6.9E-06 2.1E-05 0.710 1.000 1 2019 2019
dbSNP: rs398124615
rs398124615
CRB1
5 0.827 0.080 1 197328844 inframe insertion AATTGATGG/-;AATTGATGGAATTGATGG delins 7.7E-04 0.700 1.000 2 2006 2018
dbSNP: rs62636273
rs62636273
CRB1
3 0.882 0.080 1 197429460 stop gained T/A;C snv 3.2E-05 0.700 1.000 2 2004 2018
dbSNP: rs1195312059
rs1195312059
ERG
3 0.882 0.040 21 38403680 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1201356843
rs1201356843
CRB1
1 1.000 0.040 1 197477799 missense variant C/A;T snv 0.700 1.000 1 2018 2018