Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 13 | |
rs560887 | 0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 | 7 | |
rs516946 | 1.000 | 0.080 | 8 | 41661730 | non coding transcript exon variant | T/A;C | snv | 0.78 | 1 | ||
rs515071 | 1.000 | 0.080 | 8 | 41661944 | splice region variant | A/G;T | snv | 0.78 | 1 | ||
rs689 | 0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 | 1 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 1 | |
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 24 | ||
rs1801214 | 1.000 | 0.080 | 4 | 6301295 | missense variant | C/A;G;T | snv | 0.67 | 1 | ||
rs5219 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 2 | ||
rs5215 | 0.827 | 0.160 | 11 | 17387083 | missense variant | C/T | snv | 0.64 | 0.71 | 2 | |
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 25 | |
rs5882 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 3 | ||
rs440446 | 0.807 | 0.200 | 19 | 44905910 | missense variant | C/G;T | snv | 0.60 | 1 | ||
rs855791 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 8 | ||
rs1045493 | 1.000 | 0.080 | 20 | 45877779 | synonymous variant | G/A | snv | 0.56 | 0.52 | 1 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 1 | |
rs4820268 | 0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 | 9 | ||
rs4343 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 1 | ||
rs2073618 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 1 | |
rs3734618 | 1.000 | 0.080 | 6 | 39316408 | synonymous variant | A/G | snv | 0.52 | 0.62 | 1 | |
rs1572982 | 0.827 | 0.200 | 6 | 26094139 | intron variant | G/A;T | snv | 0.52; 8.0E-06 | 2 | ||
rs1800775 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 7 | ||
rs1535500 | 1.000 | 0.080 | 6 | 39316274 | missense variant | G/T | snv | 0.51 | 0.60 | 1 | |
rs679899 | 0.925 | 0.080 | 2 | 21028042 | missense variant | G/A | snv | 0.49 | 0.39 | 3 | |
rs4783961 | 0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 | 3 |