Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs761886494 | 0.925 | 0.040 | 8 | 19955870 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 3 | |
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs11568818 | 0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv | 15 | |||
rs12688220 | 0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 | 5 | ||
rs6622126 | 0.851 | 0.080 | X | 106956972 | missense variant | G/A | snv | 0.58 | 4 | ||
rs4409525 | 0.925 | 0.040 | X | 106897095 | intron variant | G/A | snv | 0.28 | 2 | ||
rs12008279 | 0.882 | 0.080 | X | 106917472 | intron variant | A/G;T | snv | 3 | |||
rs7057398 | 0.827 | 0.080 | X | 106901299 | intron variant | T/C | snv | 0.41 | 5 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs4751995 | 1.000 | 0.040 | 10 | 116638373 | splice acceptor variant | A/G;T | snv | 0.49 | 0.55 | 1 | |
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs1223231582 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 24 | ||
rs111033565 | 0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 | 11 | ||
rs111033566 | 0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv | 11 | |||
rs267606982 | 0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv | 11 | |||
rs10273639 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 9 | |||
rs199769221 | 0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 | 8 | ||
rs387906698 | 0.827 | 0.040 | 7 | 142751919 | missense variant | C/A;T | snv | 4.0E-06; 7.2E-05 | 8 | ||
rs202003805 | 0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 | 6 | ||
rs1554499091 | 0.925 | 0.040 | 7 | 142751884 | missense variant | T/C | snv | 2 | |||
rs752688735 | 0.925 | 0.040 | 7 | 142752547 | missense variant | G/A | snv | 2 | |||
rs61734659 | 0.790 | 0.160 | 7 | 142774035 | missense variant | G/A | snv | 1.4E-02 | 8 | ||
rs748405415 | 0.790 | 0.160 | 7 | 142773993 | stop gained | G/A;T | snv | 8 | |||
rs142022985 | 1.000 | 0.040 | 9 | 33798530 | missense variant | A/G | snv | 1.2E-03 | 1.5E-03 | 1 | |
rs11988997 | 1.000 | 0.040 | 8 | 118753955 | intron variant | C/T | snv | 7.4E-02 | 1 |