Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519864 | 0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv | 8 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs11902171 | 0.925 | 0.080 | 2 | 186678500 | 3 prime UTR variant | G/C | snv | 0.22 | 6 | ||
rs1207692596 | 0.925 | 0.080 | 17 | 58280438 | missense variant | G/A;T | snv | 3 | |||
rs12826786 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 26 | ||
rs137852578 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 9 | |||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs1570360 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 38 | ||
rs16901979 | 0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 | 16 | ||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs2295080 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 20 | |||
rs2536 | 0.776 | 0.240 | 1 | 11106656 | 3 prime UTR variant | T/C | snv | 5.8E-02 | 11 | ||
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs370535310 | 0.925 | 0.080 | 9 | 78304854 | missense variant | C/T | snv | 2.1E-05 | 3 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs61552325 | 0.882 | 0.080 | 17 | 39727784 | missense variant | C/G | snv | 5 | |||
rs6218 | 0.732 | 0.440 | 12 | 102399855 | 3 prime UTR variant | A/G | snv | 2.1E-02 | 13 | ||
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 55 | ||
rs6983561 | 0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 | 3 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs766914563 | 0.732 | 0.320 | 2 | 136115082 | synonymous variant | C/T | snv | 7.0E-06 | 16 | ||
rs864622007 | 0.882 | 0.200 | X | 67711621 | missense variant | T/A | snv | 4 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs920778 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 36 |