Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11542041 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 23 | ||
rs238406 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 23 | |
rs3219175 | 0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 | 10 | ||
rs1214285376 | 0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 | 8 | ||
rs199613843 | 0.807 | 0.160 | 19 | 43551609 | synonymous variant | C/T | snv | 4.0E-06 | 7.0E-06 | 6 | |
rs786205228 | 0.827 | 0.080 | 19 | 52212718 | missense variant | C/G;T | snv | 6 | |||
rs397514632 | 0.827 | 0.160 | 19 | 50406456 | missense variant | G/A | snv | 5 | |||
rs1048290 | 0.851 | 0.160 | 19 | 10489766 | synonymous variant | G/C | snv | 0.41 | 0.48 | 4 | |
rs997050266 | 0.851 | 0.120 | 19 | 45423352 | missense variant | T/A;C | snv | 1.4E-05 | 4 | ||
rs892119 | 0.925 | 0.080 | 19 | 40254165 | intron variant | C/T | snv | 0.19 | 2 | ||
rs17782313 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 34 | ||
rs12970291 | 0.763 | 0.120 | 18 | 75305279 | intergenic variant | G/A | snv | 2.8E-02 | 12 | ||
rs3819102 | 0.827 | 0.120 | 18 | 675307 | intron variant | A/G | snv | 4.5E-02 | 3.6E-02 | 8 | |
rs10502289 | 0.925 | 0.080 | 18 | 676789 | intron variant | A/T | snv | 0.15 | 2 | ||
rs2298581 | 0.925 | 0.080 | 18 | 677931 | intron variant | C/G | snv | 0.22 | 2 | ||
rs2298583 | 0.925 | 0.080 | 18 | 677302 | intron variant | G/A | snv | 0.34 | 0.34 | 2 | |
rs561726060 | 1.000 | 0.080 | 18 | 22263993 | regulatory region variant | C/T | snv | 4.4E-03 | 1 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 78 | ||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 57 | ||
rs28934578 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 47 | ||
rs886039484 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 32 | |||
rs587778720 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 31 |