Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886039798 | 0.925 | 0.120 | 11 | 66529902 | frameshift variant | -/T | delins | 4 | |||
rs1565532385 | 0.925 | 0.080 | 11 | 118374964 | frameshift variant | CA/- | del | 3 | |||
rs372292910 | 1.000 | 0.040 | 5 | 141122905 | frameshift variant | A/-;AA | delins | 1.7E-04 | 3 | ||
rs730882200 | 0.882 | 0.040 | 20 | 48953604 | frameshift variant | -/C | delins | 3 | |||
rs1373040226 | 1.000 | 0.040 | 5 | 97027769 | frameshift variant | -/G | delins | 1 | |||
rs1553456695 | 1.000 | 0.040 | 2 | 156329859 | frameshift variant | -/C | delins | 1 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs3219151 | 0.752 | 0.160 | 5 | 161701908 | 3 prime UTR variant | C/T | snv | 0.51 | 14 | ||
rs2486253 | 0.882 | 0.080 | 1 | 160039629 | 3 prime UTR variant | A/C;T | snv | 3 | |||
rs2292096 | 0.925 | 0.040 | 1 | 200857641 | 3 prime UTR variant | A/G | snv | 0.14 | 2 | ||
rs401750 | 0.925 | 0.040 | 5 | 162155655 | 3 prime UTR variant | C/T | snv | 0.43 | 2 | ||
rs9331949 | 0.925 | 0.080 | 8 | 27597169 | 3 prime UTR variant | T/C | snv | 6.2E-02 | 4.7E-02 | 2 | |
rs15524 | 1.000 | 0.040 | 7 | 99648291 | 3 prime UTR variant | A/G | snv | 0.17 | 0.25 | 1 | |
rs374319146 | 0.851 | 0.080 | 4 | 106194717 | splice donor variant | C/A;T | snv | 4.3E-06; 8.7E-06 | 6 | ||
rs730882222 | 0.925 | 0.040 | 17 | 6707026 | splice donor variant | A/C | snv | 3 | |||
rs2516839 | 0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 | 14 | ||
rs717620 | 0.763 | 0.240 | 10 | 99782821 | 5 prime UTR variant | C/T | snv | 0.17 | 0.15 | 10 | |
rs199516560 | 0.851 | 0.200 | 7 | 87600772 | 5 prime UTR variant | G/A | snv | 2.1E-05 | 5 | ||
rs7178130 | 0.925 | 0.120 | 15 | 72685861 | 5 prime UTR variant | G/A | snv | 0.53 | 2 | ||
rs9694676 | 0.925 | 0.080 | 8 | 104588948 | 5 prime UTR variant | A/G | snv | 8.6E-02 | 0.20 | 2 | |
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs211037 | 0.742 | 0.240 | 5 | 162101274 | synonymous variant | C/T | snv | 0.28 | 0.31 | 14 | |
rs443198 | 0.851 | 0.200 | 6 | 32222629 | synonymous variant | A/G | snv | 0.38 | 0.39 | 4 |