Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs7975232 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 56 | |
rs1800587 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 43 | ||
rs121909224 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 41 | ||
rs121909231 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 32 | |||
rs20575 | 0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 | 29 | |
rs121909218 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 25 | |||
rs121909219 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 25 | |||
rs17561 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 23 | |
rs121909229 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 23 | |||
rs917997 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 20 | |||
rs121913293 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 18 | |||
rs143383 | 0.724 | 0.320 | 20 | 35438203 | 5 prime UTR variant | G/A | snv | 0.47 | 17 | ||
rs587776667 | 0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv | 14 | |||
rs863224909 | 0.732 | 0.360 | 10 | 87960952 | stop gained | C/A;G | snv | 14 | |||
rs121909222 | 0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv | 13 | |||
rs370795352 | 0.742 | 0.360 | 10 | 87933163 | missense variant | T/A;C | snv | 4.0E-06 | 13 | ||
rs1085308041 | 0.763 | 0.160 | 10 | 87965285 | splice acceptor variant | A/C;G | snv | 12 | |||
rs1085308043 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 12 | |||
rs1224040268 | 0.742 | 0.360 | 10 | 87931091 | splice donor variant | T/A;C | snv | 7.0E-06 | 12 | ||
rs1064793345 | 0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv | 11 | |||
rs876661024 | 0.776 | 0.200 | 10 | 87957852 | splice acceptor variant | G/A;C;T | snv | 11 |