Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs2066844 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 54 | |
rs2066845 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 46 | ||
rs74799832 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 33 | ||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 29 | |||
rs1799939 | 0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 | 27 | ||
rs77724903 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 23 | ||
rs2066847 | 0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 | 18 | ||
rs76262710 | 0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 17 | ||
rs377767397 | 0.790 | 0.280 | 10 | 43113628 | missense variant | G/A;C;T | snv | 10 | |||
rs77316810 | 0.776 | 0.200 | 10 | 43113654 | missense variant | T/A;C;G | snv | 10 | |||
rs6267 | 0.827 | 0.200 | 22 | 19962740 | missense variant | G/A;T | snv | 4.8E-05; 1.4E-02 | 9 | ||
rs2439302 | 0.776 | 0.200 | 8 | 32574851 | intron variant | G/C | snv | 0.54 | 9 | ||
rs10748842 | 0.807 | 0.120 | 10 | 81889983 | intron variant | T/C | snv | 0.13 | 8 | ||
rs2435357 | 0.790 | 0.240 | 10 | 43086608 | intron variant | T/C | snv | 0.79 | 8 | ||
rs377767398 | 0.807 | 0.280 | 10 | 43113628 | missense variant | GC/AT;CT;TT | mnv | 8 | |||
rs77503355 | 0.776 | 0.160 | 10 | 43113655 | missense variant | G/A;C;T | snv | 8 | |||
rs77558292 | 0.776 | 0.160 | 10 | 43113621 | missense variant | T/A;C;G | snv | 8 | |||
rs5351 | 0.807 | 0.240 | 13 | 77901178 | synonymous variant | T/C;G | snv | 0.57 | 7 | ||
rs36119840 | 0.807 | 0.280 | 5 | 37816010 | missense variant | G/A | snv | 2.3E-03 | 2.7E-03 | 6 | |
rs6584400 | 0.851 | 0.120 | 10 | 81896770 | intron variant | G/A | snv | 0.22 | 6 | ||
rs79890926 | 0.827 | 0.160 | 10 | 43113656 | missense variant | C/G;T | snv | 1.6E-05 | 6 | ||
rs5352 | 0.827 | 0.200 | 13 | 77901095 | missense variant | C/T | snv | 1.0E-02 | 1.1E-02 | 5 | |
rs377767391 | 0.827 | 0.160 | 10 | 43113627 | missense variant | T/A;C;G | snv | 5 |