Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11813268 | 0.925 | 0.120 | 10 | 103922538 | upstream gene variant | C/T | snv | 0.31 | 1 | ||
rs182052 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 1 | ||
rs6442260 | 0.925 | 0.160 | 3 | 11549277 | intron variant | G/A | snv | 0.42 | 1 | ||
rs587782274 | 1.000 | 0.120 | 11 | 108312465 | missense variant | A/C | snv | 1 | |||
rs876658517 | 1.000 | 0.120 | 11 | 108327735 | missense variant | A/G;T | snv | 1 | |||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 1 | ||
rs1049334 | 0.851 | 0.280 | 7 | 116560326 | 3 prime UTR variant | G/A;T | snv | 1 | |||
rs3206824 | 0.827 | 0.160 | 11 | 11964514 | missense variant | T/C | snv | 0.78 | 0.78 | 1 | |
rs4903064 | 0.925 | 0.120 | 14 | 72812712 | intron variant | T/C | snv | 0.23 | 1 | ||
rs7579899 | 0.925 | 0.120 | 2 | 46310465 | intron variant | A/G | snv | 0.52 | 1 | ||
rs1397145500 | 1.000 | 0.120 | 17 | 64066782 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs4381241 | 0.925 | 0.120 | 1 | 50441766 | intron variant | T/C | snv | 0.51 | 1 | ||
rs1131690838 | 0.925 | 0.120 | 17 | 17228135 | frameshift variant | C/- | del | 1 | |||
rs78683075 | 1.000 | 0.120 | 17 | 17222565 | missense variant | G/A | snv | 2.6E-04 | 2.4E-04 | 1 | |
rs879255658 | 0.882 | 0.160 | 17 | 17228135 | start lost | C/G | snv | 1 | |||
rs372947534 | 1.000 | 0.120 | 5 | 180626237 | missense variant | G/A | snv | 4.0E-05 | 6.3E-05 | 1 | |
rs707889 | 0.827 | 0.200 | 6 | 26095703 | 3 prime UTR variant | G/A;T | snv | 1 | |||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 1 | |
rs11556218 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 1 | |
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 1 | ||
rs1143623 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 1 | ||
rs1801275 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 1 | |
rs1049380 | 0.827 | 0.120 | 12 | 26336611 | 3 prime UTR variant | G/T | snv | 0.69 | 1 | ||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 1 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 1 |