Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs1353702185 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 79 | ||
rs3775291 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 51 | ||
rs2230926 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 27 | ||
rs641738 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 22 | |||
rs7813 | 0.689 | 0.360 | 17 | 744946 | missense variant | G/A;C | snv | 0.63 | 22 | ||
rs35761398 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 19 | |||
rs3775290 | 0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 | 15 | ||
rs9275572 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 15 | |||
rs3024490 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 11 | |||
rs2293152 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 10 | ||
rs7453920 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 10 | |||
rs1054690270 | 0.827 | 0.160 | 8 | 144505907 | frameshift variant | CT/- | delins | 5 | |||
rs12614 | 0.851 | 0.160 | 6 | 31946402 | missense variant | C/G;T | snv | 4.1E-06; 0.12 | 5 | ||
rs11465817 | 0.882 | 0.120 | 1 | 67255414 | intron variant | C/A;T | snv | 4 | |||
rs6715787 | 0.851 | 0.200 | 2 | 46349033 | intron variant | C/G;T | snv | 4 | |||
rs9277542 | 0.851 | 0.280 | 6 | 33087470 | 3 prime UTR variant | T/A;C | snv | 4 | |||
rs3759333 | 0.882 | 0.120 | 12 | 6382781 | intron variant | C/G;T | snv | 3 | |||
rs12354 | 0.925 | 0.080 | 12 | 6390939 | 3 prime UTR variant | T/A;G | snv | 1.6E-04; 0.76 | 2 | ||
rs2132039 | 0.925 | 0.120 | 4 | 69293669 | intron variant | T/A;C | snv | 2 | |||
rs378352 | 0.925 | 0.200 | 6 | 33007157 | synonymous variant | G/A;C | snv | 0.20 | 2 | ||
rs2617160 | 1.000 | 0.080 | 12 | 10392998 | intron variant | A/C;T | snv | 1 |