Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs3123543 | 1 | 212617344 | intron variant | T/A;C | snv | 13 | |||||
rs3811444 | 1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 | 12 | |||
rs4360494 | 0.776 | 0.080 | 1 | 37990219 | upstream gene variant | G/C | snv | 0.45 | 12 | ||
rs17534202 | 1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 | 7 | ||
rs1175550 | 1 | 3774964 | intron variant | A/G | snv | 0.31 | 5 | ||||
rs2022003 | 1 | 158617176 | intron variant | A/T | snv | 0.28 | 5 | ||||
rs3768321 | 1.000 | 0.080 | 1 | 39570256 | intron variant | G/T | snv | 0.14 | 5 | ||
rs710218 | 0.882 | 0.280 | 1 | 42961547 | intron variant | T/A | snv | 0.38 | 5 | ||
rs755249 | 1 | 39529402 | 3 prime UTR variant | C/A;T | snv | 5 | |||||
rs12134279 | 0.925 | 0.080 | 1 | 197812068 | regulatory region variant | C/T | snv | 0.17 | 4 | ||
rs12145743 | 1 | 156730859 | intron variant | T/G | snv | 0.24 | 4 | ||||
rs2492301 | 1 | 37473572 | intron variant | T/C | snv | 0.53 | 4 | ||||
rs41313381 | 1 | 78946283 | missense variant | C/A;T | snv | 1.9E-02; 3.3E-05 | 4 | ||||
rs4846913 | 1.000 | 0.120 | 1 | 230158968 | intron variant | C/A;T | snv | 4 | |||
rs4951378 | 1 | 203689654 | intron variant | A/G | snv | 0.83 | 4 | ||||
rs586178 | 1 | 25420739 | missense variant | G/A;C | snv | 8.4E-05; 0.41 | 4 | ||||
rs6684375 | 1 | 22379941 | regulatory region variant | C/T | snv | 0.20 | 4 | ||||
rs7512552 | 1.000 | 0.120 | 1 | 150293284 | upstream gene variant | T/C | snv | 0.63 | 4 | ||
rs11585926 | 1.000 | 0.040 | 1 | 114431068 | intron variant | T/C | snv | 0.22 | 3 | ||
rs12136973 | 1.000 | 0.080 | 1 | 175171183 | intron variant | T/C | snv | 0.22 | 3 | ||
rs1419114 | 1 | 203683316 | synonymous variant | A/G | snv | 0.88 | 0.83 | 3 | |||
rs2047007 | 1 | 39962303 | intron variant | C/T | snv | 0.17 | 3 | ||||
rs2075995 | 1 | 23520972 | missense variant | C/A | snv | 0.45 | 0.39 | 3 | |||
rs2761436 | 1 | 207746403 | intergenic variant | C/A;T | snv | 3 |