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: rs751163782
rs751163782
RAB28
5 0.882 0.040 4 13369888 missense variant A/C;G snv 4.0E-06; 1.2E-05 0.700 1.000 2 2013 2015
dbSNP: rs875989778
rs875989778
RAB28
5 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015
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: 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: 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: rs1553260321
rs1553260321
CRB1
1 1.000 0.040 1 197421257 frameshift variant G/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1556313414
rs1556313414
RP2
1 1.000 0.040 X 46837109 inframe deletion TCT/- delins 0.700 1.000 1 2008 2008
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: rs61748545
rs61748545
ABCA4
2 0.925 0.040 1 94080651 missense variant G/C snv 1.0E-04 3.8E-04 0.700 1.000 1 2001 2001
dbSNP: rs61748556
rs61748556
ABCA4
2 0.925 0.040 1 94063263 missense variant G/A snv 2.4E-05 2.8E-05 0.700 1.000 1 2003 2003
dbSNP: rs61755814
rs61755814
PRPH2
1 1.000 0.040 6 42704478 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs62642564
rs62642564
ABCA4
2 0.925 0.040 1 94001068 missense variant C/G;T snv 1.5E-03 0.700 1.000 1 1998 1998
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: 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: 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: rs1553515435
rs1553515435
CERKL
3 0.925 0.040 2 181566055 splice region variant T/C 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: rs749537392
rs749537392
ATF6
1 1.000 0.040 1 161819741 missense variant G/A;C snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs777103184
rs777103184
PCARE
6 0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06 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