Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs867120336 | 1.000 | 0.040 | 2 | 10048589 | frameshift variant | -/A | delins | 4.1E-06 | 2 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs36217263 | 1.000 | 0.040 | 13 | 33015697 | upstream gene variant | A/- | del | 0.21 | 4 | ||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs1333048 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 24 | ||
rs2980853 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 16 | ||
rs3134069 | 0.776 | 0.320 | 8 | 118952749 | upstream gene variant | A/C | snv | 9.6E-02 | 11 | ||
rs3745297 | 0.790 | 0.120 | 19 | 49154952 | missense variant | A/C | snv | 0.41 | 0.38 | 10 | |
rs10946398 | 0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 | 7 | ||
rs4833103 | 0.925 | 0.160 | 4 | 38813881 | intron variant | A/C | snv | 0.64 | 5 | ||
rs113296370 | 1.000 | 0.040 | 2 | 43636315 | upstream gene variant | A/C | snv | 0.17 | 3 | ||
rs16860234 | 0.925 | 0.080 | 3 | 185793096 | intron variant | A/C | snv | 0.33 | 3 | ||
rs2275703 | 0.925 | 0.080 | 1 | 160195305 | intron variant | A/C | snv | 0.38 | 3 | ||
rs1044498 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 15 | ||
rs497309 | 0.882 | 0.240 | 6 | 31924707 | intron variant | A/C;G | snv | 5 | |||
rs2542713 | 1.000 | 0.040 | 5 | 39385539 | intron variant | A/C;G | snv | 3 | |||
rs2236513 | 1.000 | 0.040 | 17 | 17844052 | 3 prime UTR variant | A/C;G | snv | 0.58 | 2 | ||
rs6688849 | 1.000 | 0.040 | 1 | 47530532 | intergenic variant | A/C;G | snv | 2 | |||
rs779271027 | 1.000 | 0.040 | 20 | 44413723 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 | 2 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs28936379 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 10 | ||
rs1800783 | 0.827 | 0.280 | 7 | 150992309 | intron variant | A/C;G;T | snv | 7 | |||
rs1042615 | 1.000 | 0.040 | 12 | 63150429 | missense variant | A/C;G;T | snv | 0.60; 1.2E-05 | 2 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 |