Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2069825 | 1.000 | 0.040 | 7 | 22725718 | non coding transcript exon variant | -/CC | delins | 6.7E-05 | 2 | ||
rs1449295847 | 10 | 44372999 | frameshift variant | -/G | delins | 1 | |||||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs133049 | 0.882 | 0.080 | 22 | 40635351 | intron variant | A/- | delins | 0.82 | 4 | ||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs4387287 | 10 | 103918139 | 5 prime UTR variant | A/C | snv | 0.69 | 4 | ||||
rs463312 | 1.000 | 0.040 | 20 | 59022915 | missense variant | A/C | snv | 7.7E-02 | 5.7E-02 | 4 | |
rs764948729 | 0.925 | 0.080 | 6 | 160731092 | missense variant | A/C | snv | 4.0E-06 | 3 | ||
rs1406961 | 20 | 63264568 | intron variant | A/C | snv | 0.87 | 2 | ||||
rs151290 | 1.000 | 0.080 | 11 | 2800385 | intron variant | A/C | snv | 0.67 | 2 | ||
rs2969037 | 7 | 2494758 | regulatory region variant | A/C | snv | 0.78 | 1 | ||||
rs312053 | 2 | 21205177 | intergenic variant | A/C | snv | 0.35 | 1 | ||||
rs607342 | 6 | 139509081 | intron variant | A/C | snv | 0.53 | 1 | ||||
rs693482 | 1 | 64897943 | intron variant | A/C | snv | 1 | |||||
rs1044498 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 15 | ||
rs2943634 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 15 | |||
rs397509365 | 0.925 | 0.080 | 19 | 11116197 | missense variant | A/C;G | snv | 8.0E-06 | 5 | ||
rs4923461 | 0.925 | 0.120 | 11 | 27635363 | intron variant | A/C;G | snv | 5 | |||
rs220733 | 1.000 | 0.080 | 6 | 159897771 | intron variant | A/C;G | snv | 0.99 | 3 | ||
rs5963409 | 1.000 | 0.080 | X | 38351716 | intron variant | A/C;G | snv | 3 | |||
rs7763350 | 6 | 43381570 | intron variant | A/C;G | snv | 0.44 | 1 | ||||
rs9972727 | 16 | 31137821 | upstream gene variant | A/C;G | snv | 1 | |||||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs17465637 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 11 | ||
rs11084753 | 1.000 | 0.080 | 19 | 33831232 | intergenic variant | A/C;G;T | snv | 0.65 | 6 |