Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1046175 | 0.851 | 0.080 | 10 | 133391446 | stop gained | C/A;G;T | snv | 1.2E-05; 0.88 | 4 | ||
rs1650697 | 0.925 | 0.120 | 5 | 80654962 | missense variant | A/G;T | snv | 0.86 | 3 | ||
rs1950902 | 0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 | 10 | |
rs2966952 | 1.000 | 0.080 | 5 | 7867917 | missense variant | T/C;G | snv | 0.82; 4.0E-06 | 0.85 | 1 | |
rs471692 | 0.925 | 0.080 | 17 | 40400518 | intron variant | T/A;C | snv | 0.79 | 3 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1340420 | 0.925 | 0.080 | 10 | 91857549 | intron variant | A/G | snv | 0.71 | 0.70 | 3 | |
rs586339 | 1.000 | 0.080 | 1 | 43671586 | missense variant | C/A;G;T | snv | 0.70 | 0.78 | 2 | |
rs1948 | 0.827 | 0.160 | 15 | 78625057 | synonymous variant | A/G;T | snv | 0.69 | 5 | ||
rs228729 | 0.827 | 0.120 | 1 | 7785635 | intron variant | T/C | snv | 0.69 | 0.69 | 5 | |
rs373572 | 0.882 | 0.120 | 3 | 8913705 | missense variant | C/T | snv | 0.68 | 0.70 | 6 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs4636297 | 0.724 | 0.360 | 9 | 136670698 | intron variant | A/G | snv | 0.67 | 0.65 | 14 | |
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs1800975 | 0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 | 19 | ||
rs861537 | 1.000 | 0.080 | 14 | 103700738 | intron variant | C/T | snv | 0.61 | 0.61 | 1 | |
rs1049434 | 0.925 | 0.120 | 1 | 112913924 | missense variant | A/T | snv | 0.59 | 0.66 | 2 | |
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs6062251 | 1.000 | 0.080 | 20 | 62565060 | non coding transcript exon variant | T/C | snv | 0.58 | 0.62 | 1 | |
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 106 | ||
rs1051266 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 41 | ||
rs2227928 | 0.851 | 0.200 | 3 | 142562770 | missense variant | A/G | snv | 0.55 | 0.63 | 5 | |
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1050171 | 0.851 | 0.120 | 7 | 55181370 | missense variant | G/A;C | snv | 0.52; 4.0E-06 | 6 |