Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs3219489 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 24
rs75932628 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 28
rs3219484 0.807 0.160 1 45334484 missense variant C/A;T snv 4.8E-02 4.8E-02 7
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs1554950703 1.000 0.200 10 122489463 missense variant C/G snv 2
rs457274
MX1
1.000 0.040 21 41420558 5 prime UTR variant C/G snv 0.35 2
rs4818 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 27
rs1800764 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 10
rs115881343 1.000 0.040 19 44899959 intron variant C/G;T snv 2.9E-02 2
rs7759295 1.000 0.040 6 41168112 upstream gene variant C/G;T snv 2
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs375752214 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 22
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 18
rs63751438 0.776 0.120 17 46010388 missense variant C/T snv 16
rs2072446 0.776 0.160 17 49510457 missense variant C/T snv 5.2E-02 4.1E-02 11
rs398122403 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 11
rs17070145 0.790 0.120 5 168418786 intron variant C/T snv 0.43 10
rs157582 0.851 0.160 19 44892962 intron variant C/T snv 0.24 0.29 8
rs17518584 0.827 0.160 3 85555773 intron variant C/T snv 0.50 8
rs63750847
APP
0.790 0.120 21 25897620 missense variant C/T snv 4.5E-04 3.0E-04 8
rs515726205 0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 7