Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1451659304 | 1.000 | 0.040 | 16 | 868990 | missense variant | A/C | snv | 2 | |||
rs497078 | 0.925 | 0.040 | 1 | 15440540 | synonymous variant | C/A;T | snv | 3.7E-03; 9.1E-02 | 2 | ||
rs5707 | 1.000 | 0.040 | 1 | 204160543 | intron variant | A/C;G;T | snv | 0.25; 2.0E-05; 1.2E-05 | 2 | ||
rs752688735 | 0.925 | 0.040 | 7 | 142752547 | missense variant | G/A | snv | 2 | |||
rs756271986 | 0.925 | 0.040 | 7 | 142773430 | missense variant | GC/AT | mnv | 2 | |||
rs764176833 | 0.925 | 0.040 | 7 | 142773430 | missense variant | G/A | snv | 2 | |||
rs1132312 | 1.000 | 0.040 | 1 | 15518120 | missense variant | A/C;G;T | snv | 0.53 | 1 | ||
rs139635080 | 1.000 | 0.040 | 9 | 33798602 | missense variant | G/A | snv | 1 | |||
rs142907823 | 1.000 | 0.040 | 1 | 12188800 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs146966861 | 1.000 | 0.040 | 9 | 33797993 | missense variant | G/A | snv | 1 | |||
rs5743795 | 1.000 | 0.040 | 4 | 38830874 | intron variant | C/T | snv | 0.14 | 1 | ||
rs778574118 | 1.000 | 0.040 | 10 | 113721138 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs7057398 | 0.827 | 0.080 | X | 106901299 | intron variant | T/C | snv | 0.41 | 5 | ||
rs1052571 | 0.882 | 0.080 | 1 | 15524118 | missense variant | G/A | snv | 0.50 | 0.59 | 4 | |
rs111033565 | 0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 | 11 | ||
rs267606982 | 0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv | 11 | |||
rs777418530 | 0.763 | 0.120 | 16 | 84845883 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 10 | |
rs371282890 | 0.827 | 0.120 | 8 | 19955900 | missense variant | C/G | snv | 1.1E-04 | 6.3E-05 | 6 | |
rs773891125 | 0.827 | 0.120 | 8 | 19955896 | frameshift variant | CT/- | delins | 6 | |||
rs145657341 | 0.925 | 0.120 | 8 | 19951811 | missense variant | G/A | snv | 1.7E-04 | 7.0E-05 | 3 | |
rs1490931437 | 0.925 | 0.120 | 17 | 7673260 | 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 | |||
rs4251961 | 0.763 | 0.200 | 2 | 113116890 | intron variant | T/C | snv | 0.29 | 10 | ||
rs12688220 | 0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 | 5 |