Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs386675647 | 0.790 | 0.240 | 4 | 69098619 | missense variant | AT/TC | mnv | 10 | |||
rs1558005340 | 0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del | 4 | |||
rs1565532385 | 0.925 | 0.080 | 11 | 118374964 | frameshift variant | CA/- | del | 3 | |||
rs148173957 | 1.000 | 0.040 | 5 | 56078195 | intron variant | TT/- | del | 8.2E-02 | 2 | ||
rs1562927768 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 15 | |||
rs759317757 | 0.807 | 0.280 | 8 | 91078416 | frameshift variant | TTAAC/- | delins | 12 | |||
rs796051881 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 9 | |||
rs1558008455 | 0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins | 4 | |||
rs61751364 | 0.882 | 0.120 | X | 154030944 | frameshift variant | CGGAT/- | delins | 4 | |||
rs886039798 | 0.925 | 0.120 | 11 | 66529902 | frameshift variant | -/T | delins | 4 | |||
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 | |||
rs71547482 | 1.000 | 0.040 | 6 | 103600058 | intergenic variant | -/TGCAATCT | delins | 0.11 | 1 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 |