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: rs1033920857
rs1033920857
PROM1
3 0.882 0.040 4 15984309 missense variant T/A;C snv 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs104893967
rs104893967
GUCA1A
5 0.827 0.080 6 42178374 missense variant A/G snv 0.700 1.000 1 1998 1998
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: 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
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
15 0.752 0.200 2 55871091 missense variant G/A snv 0.040 1.000 4 2011 2016
dbSNP: rs137852834
rs137852834
CEP290
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
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: rs144437882
rs144437882
IMPG1
1 1.000 0.040 6 76003929 missense variant G/A;T snv 4.0E-06; 7.2E-05 0.700 0
dbSNP: rs146434364
rs146434364
PROM1
3 0.882 0.040 4 15980426 missense variant C/T snv 7.5E-05 9.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs1553192682
rs1553192682
ABCA4
1 1.000 0.040 1 94063115 missense variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1553195472
rs1553195472
ABCA4
1 1.000 0.040 1 94098843 missense variant A/C snv 0.700 0
dbSNP: rs1553196583
rs1553196583
ABCA4
2 0.925 0.040 1 94111453 frameshift variant T/- delins 0.700 0
dbSNP: rs1553260321
rs1553260321
CRB1
1 1.000 0.040 1 197421257 frameshift variant G/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1553348960
rs1553348960
EFEMP1 ; LOC112268416
5 0.882 0.080 2 55870851 missense variant A/G snv 0.700 0
dbSNP: rs1553515435
rs1553515435
CERKL
3 0.925 0.040 2 181566055 splice region variant T/C snv 0.700 0
dbSNP: rs1554604767
rs1554604767
CNGB3
2 0.925 0.120 8 86578688 splice donor variant C/T snv 0.700 0
dbSNP: rs1555801963
rs1555801963
CRX
1 1.000 0.040 19 47839362 stop gained C/T snv 0.700 0
dbSNP: rs1555961220
rs1555961220
RPGR
1 1.000 0.040 X 38285546 missense variant C/A snv 0.700 0
dbSNP: rs1556313414
rs1556313414
RP2
1 1.000 0.040 X 46837109 inframe deletion TCT/- delins 0.700 1.000 1 2008 2008
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: 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: 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