Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs763751076 | 0.925 | 0.160 | 2 | 240875132 | missense variant | C/T | snv | 1.2E-05 | 6.3E-05 | 3 | |
rs775888932 | 1.000 | 0.120 | 2 | 96115223 | missense variant | C/A;T | snv | 1 | |||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs2066853 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 34 | |
rs2854744 | 0.695 | 0.520 | 7 | 45921476 | intron variant | G/T | snv | 0.48 | 20 | ||
rs760330563 | 1.000 | 0.120 | 8 | 30180515 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs267606541 | 0.827 | 0.160 | 11 | 67487147 | stop gained | C/T | snv | 5 | |||
rs104894195 | 0.882 | 0.120 | 11 | 67490910 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 4 | ||
rs121908356 | 0.925 | 0.120 | 11 | 67490804 | stop gained | C/A | snv | 2 | |||
rs2276020 | 1.000 | 0.120 | 11 | 67490085 | missense variant | C/G;T | snv | 3.4E-02 | 2 | ||
rs142833529 | 1.000 | 0.120 | 12 | 12718195 | missense variant | T/A;C;G | snv | 1.2E-05; 5.3E-04 | 1 | ||
rs765502229 | 1.000 | 0.120 | 14 | 94116511 | missense variant | T/C | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs9930506 | 0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 | 16 | ||
rs169068 | 0.742 | 0.280 | 16 | 1079872 | missense variant | C/T | snv | 0.54 | 0.50 | 12 | |
rs34037914 | 1.000 | 0.120 | 16 | 1079501 | synonymous variant | C/T | snv | 5.9E-02 | 4.8E-02 | 1 | |
rs642249 | 1.000 | 0.120 | 16 | 1079912 | synonymous variant | A/G | snv | 0.96 | 0.96 | 1 | |
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs1290398674 | 0.851 | 0.240 | 20 | 58854075 | missense variant | G/A;T | snv | 5 | |||
rs73637412 | 0.882 | 0.160 | X | 137030751 | missense variant | C/G;T | snv | 3.5E-03; 1.5E-03 | 4 |