Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs796051881 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 9 | |||
rs730882200 | 0.882 | 0.040 | 20 | 48953604 | frameshift variant | -/C | delins | 3 | |||
rs1553456695 | 1.000 | 0.040 | 2 | 156329859 | frameshift variant | -/C | delins | 1 | |||
rs1373040226 | 1.000 | 0.040 | 5 | 97027769 | frameshift variant | -/G | delins | 1 | |||
rs886039798 | 0.925 | 0.120 | 11 | 66529902 | frameshift variant | -/T | delins | 4 | |||
rs71547482 | 1.000 | 0.040 | 6 | 103600058 | intergenic variant | -/TGCAATCT | delins | 0.11 | 1 | ||
rs372292910 | 1.000 | 0.040 | 5 | 141122905 | frameshift variant | A/-;AA | delins | 1.7E-04 | 3 | ||
rs1105879 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 11 | |
rs730882222 | 0.925 | 0.040 | 17 | 6707026 | splice donor variant | A/C | snv | 3 | |||
rs80356617 | 0.882 | 0.160 | 11 | 17387916 | missense variant | A/C | snv | 3 | |||
rs7461897 | 1.000 | 0.040 | 8 | 27037027 | intergenic variant | A/C | snv | 0.90 | 2 | ||
rs2717068 | 1.000 | 0.040 | 2 | 57867738 | intergenic variant | A/C | snv | 0.70 | 1 | ||
rs63750231 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 23 | |||
rs1057910 | 0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 | 12 | ||
rs628031 | 0.807 | 0.280 | 6 | 160139813 | missense variant | A/C;G | snv | 5.3E-05; 0.63 | 8 | ||
rs2499697 | 0.925 | 0.040 | 6 | 34077141 | intron variant | A/C;G | snv | 2 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs2486253 | 0.882 | 0.080 | 1 | 160039629 | 3 prime UTR variant | A/C;T | snv | 3 | |||
rs635311 | 0.925 | 0.040 | 2 | 219637645 | missense variant | A/C;T | snv | 0.75; 8.0E-06 | 2 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 |