Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs146436713 | 1.000 | 0.120 | 17 | 16948957 | missense variant | C/A;T | snv | 8.0E-06; 1.9E-04 | 1 | ||
rs1161169998 | 1.000 | 0.120 | 13 | 108303360 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs1467199 | 1.000 | 0.120 | 2 | 191015776 | intron variant | C/G;T | snv | 2 | |||
rs80338835 | 0.925 | 0.200 | 22 | 36282754 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs266085 | 0.851 | 0.200 | 10 | 44378805 | intron variant | C/T | snv | 0.32 | 5 | ||
rs2297630 | 0.827 | 0.160 | 10 | 44376100 | intron variant | G/A;T | snv | 0.21 | 6 | ||
rs1308699981 | 0.807 | 0.440 | 1 | 161543085 | missense variant | G/A | snv | 4.0E-06 | 7 | ||
rs10499194 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 10 | ||
rs11209032 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 10 | ||
rs4077515 | 0.763 | 0.360 | 9 | 136372044 | missense variant | C/A;T | snv | 4.0E-06; 0.41 | 11 | ||
rs762513613 | 0.752 | 0.280 | 1 | 161591315 | missense variant | A/G | snv | 4.2E-06 | 7.4E-06 | 11 | |
rs200215055 | 0.742 | 0.400 | 1 | 161626196 | missense variant | C/A;G;T | snv | 1.5E-03; 1.2E-05; 4.0E-06 | 11 | ||
rs879761216 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 14 | |||
rs1050501 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 15 | |
rs2501432 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 16 | ||
rs181206 | 0.742 | 0.440 | 16 | 28502082 | missense variant | A/G | snv | 0.28 | 0.24 | 16 | |
rs2424913 | 0.708 | 0.440 | 20 | 32786453 | intron variant | C/T | snv | 0.56 | 0.53 | 18 | |
rs35761398 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 19 | |||
rs7517847 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 19 | ||
rs5029939 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 19 | ||
rs2230926 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 27 | ||
rs745738344 | 0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 | 28 | |
rs1360780 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 31 | |||
rs1884444 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 34 | |
rs153109 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 37 |