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: 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: rs281865377
rs281865377
ABCA4
6 0.807 0.080 1 94029447 frameshift variant G/-;GG delins 2.1E-05 0.700 1.000 2 2001 2008
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: rs1201356843
rs1201356843
CRB1
1 1.000 0.040 1 197477799 missense variant C/A;T snv 0.700 1.000 1 2018 2018
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: 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: 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: rs61749455
rs61749455
ABCA4
3 0.882 0.080 1 94044692 stop gained C/A;G;T snv 5.6E-04; 4.0E-06 0.700 1.000 1 2003 2003
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: rs61751263
rs61751263
ABCA4
3 0.882 0.080 1 94060760 splice acceptor variant C/T snv 4.2E-06 1.4E-05 0.700 1.000 1 1999 1999
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: rs62635654
rs62635654
CRB1
4 0.851 0.080 1 197427615 missense variant C/G;T snv 4.0E-06; 7.6E-05 0.700 1.000 1 2018 2018
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: 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: rs764256655
rs764256655
CRB1
2 0.925 0.080 1 197328935 missense variant G/T snv 1.2E-05 5.6E-05 0.700 1.000 1 2018 2018
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: rs1553195472
rs1553195472
ABCA4
1 1.000 0.040 1 94098843 missense variant A/C snv 0.700 0