Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs146173241 | 1.000 | 0.040 | 10 | 116285226 | downstream gene variant | C/T | snv | 7.1E-03 | 2 | ||
rs111908689 | 1.000 | 0.040 | 11 | 85938055 | downstream gene variant | C/G;T | snv | 1 | |||
rs28498976 | 1.000 | 0.040 | 4 | 31149735 | downstream gene variant | G/A | snv | 0.44 | 1 | ||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 63 | ||
rs1611115 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 16 | ||
rs143543475 | 1.000 | 0.040 | 10 | 27419100 | upstream gene variant | G/C | snv | 8.0E-02 | 2 | ||
rs74912790 | 1.000 | 0.040 | 9 | 21354067 | upstream gene variant | G/A | snv | 4.2E-05 | 2 | ||
rs75078187 | 1.000 | 0.040 | 9 | 26064687 | upstream gene variant | T/C | snv | 1.1E-04 | 2 | ||
rs969885 | 0.925 | 0.040 | 21 | 25558821 | upstream gene variant | C/T | snv | 8.2E-02 | 2 | ||
rs12483428 | 1.000 | 0.040 | 21 | 25561470 | upstream gene variant | T/C;G | snv | 1 | |||
rs492146 | 1.000 | 0.040 | 6 | 52971097 | upstream gene variant | G/A | snv | 0.47 | 1 | ||
rs9314349 | 1.000 | 0.040 | 8 | 27616685 | upstream gene variant | A/G | snv | 0.30 | 1 | ||
rs587776954 | 0.827 | 0.320 | 12 | 6944122 | start lost | A/G | snv | 3.2E-05 | 2.1E-05 | 6 | |
rs3812718 | 0.776 | 0.240 | 2 | 166053034 | splice region variant | C/T | snv | 0.48 | 8 | ||
rs776746 | 0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 | 21 | ||
rs1064797102 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 15 | |||
rs17183814 | 0.827 | 0.120 | 2 | 165295879 | splice acceptor variant | G/A | snv | 8.4E-02 | 6.2E-02 | 7 | |
rs1562927768 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 15 | |||
rs759317757 | 0.807 | 0.280 | 8 | 91078416 | frameshift variant | TTAAC/- | delins | 12 | |||
rs796051881 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 9 | |||
rs1558005340 | 0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del | 4 | |||
rs1558008455 | 0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins | 4 | |||
rs61751364 | 0.882 | 0.120 | X | 154030944 | frameshift variant | CGGAT/- | delins | 4 |