Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1114167628 | 0.925 | 0.080 | 10 | 87961033 | stop gained | -/ATATCTAG | delins | 4 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs886040340 | 0.882 | 0.080 | 13 | 32319111 | frameshift variant | -/C | delins | 3 | |||
rs1799732 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 11 | |||
rs1205454520 | 0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 | 10 | ||
rs878853941 | 1.000 | 0.080 | 10 | 87952168 | frameshift variant | -/T | delins | 1 | |||
rs754284524 | 1.000 | 0.040 | 5 | 122074125 | stop gained | -/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC | ins | 4.0E-06 | 2 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs777875898 | 1.000 | 0.120 | 9 | 111594264 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 | 2 | |
rs886041332 | 10 | 87960962 | frameshift variant | A/- | del | 1 | |||||
rs1064793929 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 4 | |||
rs144848 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 29 | |
rs4646 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 16 | |
rs735482 | 0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 | 16 | |
rs4968451 | 0.732 | 0.160 | 17 | 61849946 | intron variant | A/C | snv | 0.15 | 13 | ||
rs4652 | 0.752 | 0.200 | 14 | 55138318 | missense variant | A/C | snv | 4.1E-06; 0.45 | 0.57 | 11 | |
rs1057519697 | 0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv | 10 | |||
rs627928 | 0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 | 10 | |
rs1566734 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 9 | |
rs1990172 | 0.827 | 0.120 | 7 | 20164512 | intron variant | A/C | snv | 0.27 | 6 | ||
rs4796030 | 0.827 | 0.120 | 17 | 35003131 | 3 prime UTR variant | A/C | snv | 0.66 | 6 | ||
rs16917302 | 0.851 | 0.080 | 10 | 62501439 | intron variant | A/C | snv | 0.18 | 5 | ||
rs386352352 | 0.851 | 0.080 | 19 | 14097604 | missense variant | A/C | snv | 5 | |||
rs779682021 | 0.882 | 0.120 | 15 | 74721227 | missense variant | A/C | snv | 5 | |||
rs11895168 | 0.925 | 0.080 | 2 | 211377467 | 3 prime UTR variant | A/C | snv | 0.68 | 4 |