Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587776802 | 1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins | 2 | |||
rs1553631896 | 1.000 | 0.080 | 3 | 41233836 | frameshift variant | -/A | delins | 1 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 | |||
rs1554043088 | 1.000 | 0.080 | 5 | 1294548 | frameshift variant | -/C | delins | 1 | |||
rs397514032 | 1.000 | 0.080 | 5 | 112828923 | frameshift variant | A/- | delins | 1 | |||
rs1064793929 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 1 | |||
rs1517352 | 0.851 | 0.160 | 2 | 191066738 | intron variant | A/C | snv | 0.45 | 5 | ||
rs1057519959 | 0.882 | 0.200 | 11 | 66063028 | missense variant | A/C | snv | 4 | |||
rs6568431 | 0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 | 3 | ||
rs1413975856 | 1.000 | 0.080 | 3 | 41224579 | missense variant | A/C | snv | 7.0E-06 | 1 | ||
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 15 | ||
rs863225311 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 7 | |||
rs455804 | 1.000 | 0.080 | 21 | 29773850 | intron variant | A/C;G | snv | 1 | |||
rs121913274 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 30 | |||
rs876660821 | 0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv | 21 | |||
rs1057519981 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 20 | |||
rs530941076 | 0.695 | 0.280 | 17 | 7674873 | missense variant | A/C;G;T | snv | 4.0E-06 | 20 | ||
rs1057519927 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 19 | |||
rs760043106 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 18 | |||
rs1057519747 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 17 | |||
rs864622237 | 0.716 | 0.320 | 17 | 7674263 | missense variant | A/C;G;T | snv | 17 | |||
rs967461896 | 0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv | 16 | |||
rs786203436 | 0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv | 15 | |||
rs1057519975 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 13 | |||
rs1057520006 | 0.752 | 0.240 | 17 | 7673799 | missense variant | A/C;G;T | snv | 12 |