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
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
11 0.776 0.080 4 16013299 missense variant G/A snv 0.720 1.000 3 2010 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: rs139185976
rs139185976
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
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
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
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
3 0.882 0.080 1 197429460 stop gained T/A;C snv 3.2E-05 0.700 1.000 2 2004 2018
dbSNP: rs751163782
rs751163782
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
5 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015
dbSNP: rs104893967
rs104893967
5 0.827 0.080 6 42178374 missense variant A/G snv 0.700 1.000 1 1998 1998
dbSNP: rs104893968
rs104893968
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: rs1201356843
rs1201356843
1 1.000 0.040 1 197477799 missense variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1553192682
rs1553192682
1 1.000 0.040 1 94063115 missense variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1553260321
rs1553260321
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: rs201471607
rs201471607
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
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
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
2 0.925 0.080 11 61959517 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs61748545
rs61748545
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
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
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
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
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