Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs111033560 | 0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 | 9 | ||
rs7157599 | 0.925 | 0.040 | 14 | 100159565 | missense variant | C/T | snv | 0.73 | 0.76 | 6 | |
rs143978652 | 0.882 | 0.080 | 14 | 23393437 | missense variant | C/A;T | snv | 9.3E-04; 4.0E-06 | 6 | ||
rs1057518920 | 0.925 | 0.080 | 6 | 7575386 | stop gained | C/A | snv | 5 | |||
rs2824292 | 0.925 | 0.080 | 21 | 17414857 | regulatory region variant | G/A | snv | 0.47 | 3 | ||
rs597503 | 18 | 6939948 | upstream gene variant | G/A;C | snv | 3 | |||||
rs950776 | 1.000 | 0.080 | 15 | 78633676 | intron variant | T/C | snv | 0.26 | 3 | ||
rs2251393 | 1.000 | 0.080 | 17 | 62701571 | 3 prime UTR variant | G/A;C | snv | 0.85; 4.9E-05 | 3 | ||
rs10833905 | 11 | 23023046 | regulatory region variant | T/A | snv | 0.25 | 2 | ||||
rs11624056 | 14 | 87039904 | intergenic variant | A/T | snv | 8.0E-02 | 2 | ||||
rs12155623 | 8 | 48899642 | regulatory region variant | A/C;T | snv | 2 | |||||
rs17718586 | 17 | 70648048 | intergenic variant | G/T | snv | 7.1E-02 | 2 | ||||
rs1823172 | 12 | 127308069 | intergenic variant | C/T | snv | 0.17 | 2 | ||||
rs2389202 | 4 | 116333133 | intergenic variant | A/T | snv | 0.78 | 2 | ||||
rs54211 | 22 | 39291479 | upstream gene variant | A/G | snv | 0.90 | 2 | ||||
rs6716724 | 2 | 11370822 | intergenic variant | A/G | snv | 0.82 | 2 | ||||
rs6964415 | 7 | 46202985 | intergenic variant | T/A;C;G | snv | 2 | |||||
rs1559040 | 2 | 54120613 | intron variant | C/T | snv | 0.11 | 2 | ||||
rs2281680 | 14 | 23563861 | splice region variant | C/T | snv | 0.18 | 0.13 | 2 | |||
rs10829156 | 10 | 18661626 | intron variant | T/C | snv | 0.79 | 2 | ||||
rs17291650 | 12 | 50819650 | synonymous variant | A/G | snv | 6.7E-02 | 6.4E-02 | 2 | |||
rs4665058 | 2 | 159333698 | intron variant | A/C | snv | 0.90 | 2 | ||||
rs2982694 | 6 | 151964552 | intron variant | G/T | snv | 0.86 | 2 | ||||
rs12189362 | 5 | 153677988 | intron variant | C/T | snv | 0.11 | 2 | ||||
rs62641689 | 15 | 73323818 | missense variant | C/A;T | snv | 3.2E-03 | 2 |