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: rs1553195472
rs1553195472
1 1.000 0.040 1 94098843 missense variant A/C snv 0.700 0
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: 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: rs104893967
rs104893967
5 0.827 0.080 6 42178374 missense variant A/G snv 0.700 1.000 1 1998 1998
dbSNP: rs281865255
rs281865255
2 0.925 0.080 11 61959517 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs61751392
rs61751392
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: rs768435443
rs768435443
8 0.807 0.080 1 94055128 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1553348960
rs1553348960
5 0.882 0.080 2 55870851 missense variant A/G snv 0.700 0
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: rs80338903
rs80338903
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: rs771454167
rs771454167
6 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 0
dbSNP: rs62645944
rs62645944
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: rs1555961220
rs1555961220
1 1.000 0.040 X 38285546 missense variant C/A snv 0.700 0
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: rs1201356843
rs1201356843
1 1.000 0.040 1 197477799 missense variant C/A;T snv 0.700 1.000 1 2018 2018
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: rs753657349
rs753657349
2 0.925 0.080 6 42704568 missense variant C/A;T snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs875989778
rs875989778
5 0.882 0.040 4 13479429 splice donor variant C/G snv 0.700 1.000 2 2013 2015
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: rs62635654
rs62635654
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
2 0.925 0.040 1 94001068 missense variant C/G;T snv 1.5E-03 0.700 1.000 1 1998 1998
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: 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: rs146434364
rs146434364
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: 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