Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs57408770 | 1.000 | 0.080 | 2 | 219058688 | non coding transcript exon variant | -/AAG | delins | 2 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs11283943 | 0.882 | 0.160 | 5 | 113071088 | splice donor variant | -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT | delins | 4 | |||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs764803020 | 0.851 | 0.040 | 17 | 7673750 | frameshift variant | -/TTTCCGCCGG | delins | 4.0E-06 | 5 | ||
rs17103265 | 0.925 | 0.080 | 14 | 35405503 | upstream gene variant | A/- | delins | 3 | |||
rs61734277 | 0.882 | 0.080 | 6 | 10874672 | missense variant | A/C | snv | 9.1E-03 | 8.6E-03 | 5 | |
rs121909174 | 0.925 | 0.120 | 19 | 17881961 | missense variant | A/C | snv | 1.2E-05 | 3 | ||
rs4635002 | 0.925 | 0.080 | 10 | 127064415 | intron variant | A/C | snv | 0.92 | 3 | ||
rs78311289 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 25 | ||
rs1131691021 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 21 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs1057519747 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 23 | |||
rs281864719 | 0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv | 14 | |||
rs1989969 | 0.827 | 0.120 | 12 | 47884227 | intron variant | A/C;G;T | snv | 0.60 | 8 | ||
rs132793 | 0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv | 7 | |||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 29 | |||
rs6505162 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 25 | ||
rs17855750 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 21 | ||
rs2682818 | 0.742 | 0.320 | 12 | 80935757 | non coding transcript exon variant | A/C;T | snv | 0.83 | 14 | ||
rs9138 | 0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv | 12 | |||
rs5999749 | 0.925 | 0.080 | 22 | 21833371 | intron variant | A/C;T | snv | 3 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 |