Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs470558 | 1.000 | 0.040 | 11 | 102795585 | synonymous variant | T/C | snv | 0.92 | 0.95 | 1 | |
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs7297245 | 0.882 | 0.040 | 12 | 95980836 | missense variant | C/T | snv | 0.85 | 0.86 | 4 | |
rs471692 | 0.925 | 0.080 | 17 | 40400518 | intron variant | T/A;C | snv | 0.79 | 3 | ||
rs26279 | 0.790 | 0.160 | 5 | 80873118 | missense variant | G/A | snv | 0.73 | 0.70 | 9 | |
rs8305 | 0.882 | 0.120 | 18 | 54294435 | missense variant | G/A | snv | 0.72 | 0.78 | 4 | |
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 | |
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 | ||
rs16891982 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 13 | ||
rs1800975 | 0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 | 19 | ||
rs3087386 | 0.790 | 0.160 | 2 | 99439044 | missense variant | A/G | snv | 0.58 | 0.61 | 8 | |
rs7208422 | 0.807 | 0.120 | 17 | 78134494 | missense variant | A/C;T | snv | 4.0E-06; 0.51 | 6 | ||
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs3846662 | 0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 | 12 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs602662 | 0.716 | 0.280 | 19 | 48703728 | missense variant | G/A | snv | 0.40 | 0.47 | 16 | |
rs17568 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 12 | |
rs1047840 | 0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 | 19 | |
rs3732183 | 1.000 | 0.040 | 2 | 47466820 | intron variant | G/A;T | snv | 0.34; 4.0E-06 | 0.40 | 1 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1050631 | 0.882 | 0.080 | 18 | 36114157 | synonymous variant | G/A | snv | 0.33 | 0.30 | 4 | |
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 58 |