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 | 34 | |
rs560887 | 0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 | 9 | |
rs516946 | 1.000 | 0.080 | 8 | 41661730 | non coding transcript exon variant | T/A;C | snv | 0.78 | 1 | ||
rs1801212 | 1.000 | 0.080 | 4 | 6300792 | missense variant | G/A;C;T | snv | 0.78 | 1 | ||
rs515071 | 1.000 | 0.080 | 8 | 41661944 | splice region variant | A/G;T | snv | 0.78 | 1 | ||
rs2073721 | 1.000 | 0.080 | 6 | 31161839 | missense variant | A/G | snv | 0.75 | 0.78 | 1 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 1 | ||
rs1926447 | 0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 | 1 | |
rs689 | 0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 | 3 | |
rs4077129 | 1.000 | 0.080 | 22 | 49963045 | missense variant | T/C | snv | 0.73; 4.1E-06 | 0.75 | 1 | |
rs1788799 | 1.000 | 0.080 | 18 | 23544981 | missense variant | C/A;G;T | snv | 4.2E-06; 0.73 | 1 | ||
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 5 | |
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 61 | ||
rs1801214 | 1.000 | 0.080 | 4 | 6301295 | missense variant | C/A;G;T | snv | 0.67 | 1 | ||
rs9891146 | 1.000 | 0.080 | 17 | 67991933 | missense variant | T/C | snv | 0.64 | 0.60 | 2 | |
rs5219 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 4 | ||
rs5215 | 0.827 | 0.160 | 11 | 17387083 | missense variant | C/T | snv | 0.64 | 0.71 | 2 | |
rs757110 | 0.851 | 0.080 | 11 | 17396930 | missense variant | C/A;T | snv | 0.64; 8.0E-06 | 2 | ||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 55 | |
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 1 | ||
rs440446 | 0.807 | 0.200 | 19 | 44905910 | missense variant | C/G;T | snv | 0.60 | 1 | ||
rs1058018 | 1.000 | 0.080 | 17 | 48922889 | synonymous variant | C/T | snv | 0.59 | 0.56 | 1 | |
rs2276853 | 1.000 | 0.080 | 3 | 47240813 | missense variant | G/A;C;T | snv | 0.57 | 1 | ||
rs855791 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 17 | ||
rs7195386 | 0.925 | 0.120 | 16 | 24567137 | splice region variant | T/A;C | snv | 0.56 | 2 |