Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs142952627 1.000 0.080 4 186287734 stop gained G/A;T snv 8.0E-06 1
rs281875250 1.000 0.080 4 186288460 stop gained C/A;T snv 4.0E-06 1
rs281875270
F11
1.000 0.080 4 186280378 stop gained G/A;T snv 1.6E-05; 4.0E-06 1
rs281875279
F11
1.000 0.080 4 186276373 stop gained G/A;C snv 1.6E-05 1
rs786204929 0.752 0.200 10 87933144 stop gained G/A;T snv 1
rs587782603 1.000 0.040 10 87952118 stop gained G/A;T snv 1
rs786202398 0.925 0.080 10 87925518 stop gained T/A;G snv 1
rs104894569 0.925 0.080 17 42909407 stop gained G/A;T snv 1
rs1189630738 0.925 0.080 17 42909323 stop gained G/A;T snv 4.0E-06; 4.0E-06 1
rs374470794
GAA
1.000 0.120 17 80112625 stop gained C/A;G;T snv 1
rs752921215
GAA
1.000 0.120 17 80117015 stop gained G/A;C;T snv 4.0E-06; 6.8E-05; 7.2E-05 1
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 1
rs34371500
F8
1.000 0.080 X 154969518 stop gained C/A;T snv 1
rs137852439
F8
1.000 0.080 X 154928647 stop gained G/A;C;T snv 1
rs137852414
F8
0.925 0.080 X 154961120 stop gained C/A;T snv 1
rs28933668
F8
1.000 0.080 X 154966522 stop gained G/A;T snv 1
rs137852426
F8
1.000 0.080 X 154953983 stop gained C/G;T snv 1
rs137852355
F8
1.000 0.080 X 154861759 stop gained G/A;C snv 1
rs1388356765
F8
1.000 0.080 X 154993116 stop gained C/A;T snv 1
rs137852373
F8
1.000 0.080 X 154928623 stop gained C/A;T snv 1
rs191312027 1.000 0.160 13 51950132 stop gained C/A;T snv 4.0E-06; 6.9E-04 1
rs137853279 1.000 0.160 13 51941111 stop gained C/A;T snv 1
rs367545984
VHL
1.000 0.120 3 10149879 stop gained G/A;T snv 1.6E-05 1
rs5030802
VHL
1.000 0.120 3 10142055 stop gained G/A;T snv 4.4E-06 1
rs727504215
VHL
1.000 0.120 3 10146524 stop gained G/A;T snv 4.0E-06 1