Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113010081 | 0.925 | 0.160 | 3 | 46415921 | downstream gene variant | T/C | snv | 7.3E-02 | 3 | ||
rs2111485 | 0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 | 17 | ||
rs2542151 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 11 | ||
rs3024505 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 10 | ||
rs4728142 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 18 | ||
rs917997 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 20 | |||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs13306190 | 0.807 | 0.320 | 2 | 21032408 | missense variant | G/A;C;T | snv | 1.7E-04; 8.0E-06 | 7 | ||
rs653178 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 41 | ||
rs2043211 | 0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 | 29 | |
rs4804803 | 0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 | 15 | ||
rs727088 | 0.790 | 0.400 | 18 | 69863203 | 3 prime UTR variant | G/A | snv | 0.47 | 8 | ||
rs3087243 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 44 | ||
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs516246 | 0.925 | 0.160 | 19 | 48702915 | intron variant | C/T | snv | 0.38 | 0.45 | 10 | |
rs601338 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 19 | |
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs4676410 | 0.716 | 0.240 | 2 | 240624322 | intron variant | G/A | snv | 0.26 | 17 | ||
rs477515 | 0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 | 10 | ||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs1990760 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 33 | |
rs3024493 | 0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 | 9 | ||
rs10889677 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 40 | ||
rs11209026 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 46 |