Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5370 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 37 | |
rs4898 | 0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 | 25 | |
rs4149056 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 45 | |
rs1800624 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 33 | |||
rs1800730 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 32 | |
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs1801253 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 34 | |
rs2276109 | 0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 | 18 | ||
rs1800888 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 23 | |
rs1799895 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 26 | |
rs5219 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 25 | ||
rs10455872 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 33 | ||
rs10757274 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 22 | ||
rs1801252 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 17 | |
rs2383206 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 17 | ||
rs8193037 | 0.752 | 0.320 | 6 | 52186311 | upstream gene variant | G/A;T | snv | 12 | |||
rs4819554 | 0.776 | 0.320 | 22 | 17084145 | upstream gene variant | G/A | snv | 0.84 | 10 | ||
rs1800779 | 0.763 | 0.320 | 7 | 150992855 | intron variant | G/A;C | snv | 9 | |||
rs1136201 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 34 | ||
rs2383207 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 22 | ||
rs1022113606 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 17 | |
rs8179090 | 0.752 | 0.280 | 17 | 78925807 | upstream gene variant | C/G | snv | 1.6E-02 | 12 | ||
rs1222174664 | 0.827 | 0.280 | 5 | 102477801 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 5 | |
rs1535 | 0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 | 24 |