Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3173615 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 12
rs156697 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 25
rs1799990 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 23
rs4925 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 28
rs5030732 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 10
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs1049564
PNP
0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21 6
rs9468 0.882 0.080 17 46024197 3 prime UTR variant T/C snv 0.15 0.14 6
rs1052553 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 8
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs17125721 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 14
rs75548401
GBA
0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 6
rs72824905 0.827 0.200 16 81908423 missense variant C/G;T snv 5.2E-03 6
rs75932628 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 28
rs200161705 0.882 0.160 4 169585374 missense variant C/A;T snv 6.0E-05; 2.3E-03 5
rs143624519 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 17
rs34637584 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 78
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs74315408 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 16
rs149215094 1.000 0.080 20 58444203 missense variant G/A snv 5.6E-05 5.6E-05 2
rs121917767 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 6
rs121912442 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 7
rs587778556 2 177231705 missense variant G/A snv 3.2E-05 4.9E-05 2
rs34015634 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 8