Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs3732378 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 44 | |
rs4961 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 27 | ||
rs375752214 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 22 | |
rs5742905 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 21 | |||
rs4746 | 0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 | 21 | ||
rs599839 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 17 | |||
rs2295490 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 16 | ||
rs11868035 | 0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 | 14 | |
rs876657421 | 0.763 | 0.240 | 21 | 43063074 | coding sequence variant | -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG | delins | 11 | |||
rs57920071 | 0.763 | 0.320 | 1 | 156136984 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 11 | |
rs1191926239 | 0.807 | 0.200 | 9 | 117704539 | missense variant | C/G | snv | 4.0E-06 | 7 | ||
rs9818870 | 0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv | 6 | |||
rs1056534 | 0.882 | 0.200 | 17 | 82750725 | synonymous variant | C/A;G;T | snv | 0.62 | 5 | ||
rs1050283 | 0.882 | 0.160 | 12 | 10159690 | 3 prime UTR variant | G/A | snv | 0.40 | 4 | ||
rs3848403 | 1.000 | 0.040 | 17 | 82736023 | intron variant | C/T | snv | 0.49 | 3 | ||
rs753482 | 0.925 | 0.040 | 7 | 151009295 | intron variant | C/A;G;T | snv | 0.83; 4.0E-05; 3.1E-05; 4.4E-06 | 3 | ||
rs72551362 | 0.925 | 0.080 | 3 | 12416836 | missense variant | G/A | snv | 4.0E-06 | 3 | ||
rs772155434 | 3 | 33058188 | missense variant | C/T | snv | 4.0E-06 | 1 | ||||
rs910042982 | 2 | 11227257 | missense variant | C/T | snv | 1 | |||||
rs754390004 | 1 | 100724804 | missense variant | T/A;C | snv | 1.2E-05 | 1 | ||||
rs1395198370 | 12 | 6075370 | missense variant | A/G | snv | 7.0E-06 | 1 |