Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1573496 | 0.827 | 0.160 | 4 | 99428512 | missense variant | C/G | snv | 8.5E-02; 4.9E-04 | 7.8E-02 | 7 | |
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
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 | |
rs768388223 | 1.000 | 0.040 | 14 | 94614795 | synonymous variant | C/T | snv | 4.0E-06 | 1 | ||
rs2274223 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 40 | |
rs544899118 | 0.925 | 0.160 | 14 | 94115873 | missense variant | T/C | snv | 4.4E-06 | 7.0E-06 | 2 | |
rs11599672 | 0.925 | 0.080 | 10 | 93993019 | regulatory region variant | T/G | snv | 0.21 | 3 | ||
rs267606870 | 0.763 | 0.280 | 15 | 90088703 | missense variant | G/A;C | snv | 11 | |||
rs121913502 | 0.708 | 0.320 | 15 | 90088702 | missense variant | C/A;T | snv | 3.2E-05 | 19 | ||
rs121909229 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 23 | |||
rs121909224 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 41 | ||
rs121909237 | 1.000 | 0.040 | 10 | 87933121 | missense variant | C/G | snv | 2 | |||
rs989902 | 0.742 | 0.240 | 4 | 86785353 | missense variant | T/G | snv | 0.42 | 0.53 | 12 | |
rs2230600 | 0.827 | 0.160 | 4 | 86769845 | missense variant | A/G | snv | 0.18 | 0.14 | 5 | |
rs10033029 | 1.000 | 0.040 | 4 | 86764643 | missense variant | T/C;G | snv | 9.4E-06; 8.0E-02 | 1 | ||
rs229811 | 1.000 | 0.040 | 14 | 83448259 | intergenic variant | G/C | snv | 4.4E-02 | 1 | ||
rs749710704 | 0.790 | 0.160 | 5 | 79119289 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
rs372359132 | 0.827 | 0.160 | 5 | 7878203 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 5 | |
rs1211098985 | 1.000 | 0.040 | 5 | 7878128 | missense variant | T/C;G | snv | 4.0E-06 | 3 | ||
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs2280148 | 0.925 | 0.080 | 17 | 78358299 | 3 prime UTR variant | T/G | snv | 2.5E-02 | 2 | ||
rs12452890 | 1.000 | 0.040 | 17 | 78134989 | synonymous variant | G/A | snv | 0.54 | 0.58 | 1 | |
rs7208422 | 0.807 | 0.120 | 17 | 78134494 | missense variant | A/C;T | snv | 4.0E-06; 0.51 | 6 | ||
rs1972597 | 1.000 | 0.040 | 17 | 77598082 | intron variant | T/C | snv | 0.31 | 2 |