Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1805017 | 0.851 | 0.240 | 6 | 46716485 | missense variant | C/A;T | snv | 4.0E-06; 0.31 | 5 | ||
rs1052571 | 0.882 | 0.080 | 1 | 15524118 | missense variant | G/A | snv | 0.50 | 0.59 | 4 | |
rs145657341 | 0.925 | 0.120 | 8 | 19951811 | missense variant | G/A | snv | 1.7E-04 | 7.0E-05 | 3 | |
rs1451659304 | 1.000 | 0.040 | 16 | 868990 | missense variant | A/C | snv | 2 | |||
rs1490931437 | 0.925 | 0.120 | 17 | 7673260 | missense variant | G/A | snv | 2 | |||
rs752688735 | 0.925 | 0.040 | 7 | 142752547 | missense variant | G/A | snv | 2 | |||
rs756271986 | 0.925 | 0.040 | 7 | 142773430 | missense variant | GC/AT | mnv | 2 | |||
rs764176833 | 0.925 | 0.040 | 7 | 142773430 | missense variant | G/A | snv | 2 | |||
rs1132312 | 1.000 | 0.040 | 1 | 15518120 | missense variant | A/C;G;T | snv | 0.53 | 1 | ||
rs139635080 | 1.000 | 0.040 | 9 | 33798602 | missense variant | G/A | snv | 1 | |||
rs142907823 | 1.000 | 0.040 | 1 | 12188800 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs146966861 | 1.000 | 0.040 | 9 | 33797993 | missense variant | G/A | snv | 1 | |||
rs778574118 | 1.000 | 0.040 | 10 | 113721138 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs1800796 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 74 | ||
rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
rs497078 | 0.925 | 0.040 | 1 | 15440540 | synonymous variant | C/A;T | snv | 3.7E-03; 9.1E-02 | 2 | ||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs9904341 | 0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 | 20 | ||
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs773891125 | 0.827 | 0.120 | 8 | 19955896 | frameshift variant | CT/- | delins | 6 | |||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
rs10273639 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 9 |