Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3740066 | 0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 | 20 | ||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs2233679 | 0.763 | 0.360 | 19 | 9834678 | splice region variant | C/T | snv | 0.59 | 11 | ||
rs2233678 | 0.732 | 0.360 | 19 | 9834503 | non coding transcript exon variant | G/A;C | snv | 14 | |||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
rs1057035 | 0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 | 12 | ||
rs2274223 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 40 | |
rs3765524 | 0.724 | 0.320 | 10 | 94298541 | missense variant | C/T | snv | 0.27 | 0.31 | 17 | |
rs10272859 | 0.925 | 0.120 | 7 | 90689160 | intron variant | G/C | snv | 0.39 | 4 | ||
rs1805794 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 41 | |
rs2735383 | 0.708 | 0.360 | 8 | 89935041 | 3 prime UTR variant | C/G | snv | 0.31 | 18 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs7763881 | 0.776 | 0.160 | 6 | 8653014 | non coding transcript exon variant | A/C | snv | 0.44 | 11 | ||
rs1044250 | 0.807 | 0.240 | 19 | 8371280 | missense variant | C/T | snv | 0.30 | 0.29 | 12 | |
rs11556218 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 27 | |
rs4778889 | 0.683 | 0.480 | 15 | 81296654 | intron variant | T/C | snv | 0.24 | 24 | ||
rs4072111 | 0.716 | 0.400 | 15 | 81285798 | missense variant | C/T | snv | 0.17 | 0.11 | 16 | |
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs9904341 | 0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 | 20 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs28934578 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 47 | ||
rs876658468 | 0.689 | 0.440 | 17 | 7674954 | missense variant | G/A;C;T | snv | 24 |