Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs587782329 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 23 | |||
rs246079 | 0.790 | 0.120 | 12 | 109109255 | intron variant | A/G;T | snv | 9 | |||
rs3219218 | 0.851 | 0.120 | 12 | 109100430 | intron variant | A/G | snv | 1.9E-02 | 4 | ||
rs750898115 | 0.882 | 0.080 | 4 | 75787191 | missense variant | A/G | snv | 1.0E-05 | 3.5E-05 | 4 | |
rs7082598 | 1.000 | 0.040 | 10 | 119192212 | regulatory region variant | C/T | snv | 0.11 | 3 | ||
rs2305809 | 1.000 | 0.040 | 19 | 41850561 | synonymous variant | C/T | snv | 0.40 | 3 | ||
rs2029167 | 0.925 | 0.080 | 12 | 54196349 | intergenic variant | G/A | snv | 0.52 | 3 | ||
rs3087404 | 0.925 | 0.080 | 12 | 54187830 | 5 prime UTR variant | T/C | snv | 0.47 | 3 | ||
rs11637235 | 1.000 | 0.040 | 15 | 48340956 | intron variant | C/T | snv | 0.54 | 2 | ||
rs1280759302 | 1.000 | 0.040 | 6 | 32829419 | missense variant | T/C | snv | 2 | |||
rs10851465 | 1.000 | 0.040 | 15 | 48337687 | intron variant | T/C | snv | 0.68 | 1 | ||
rs28381106 | 1.000 | 0.040 | 15 | 48332799 | intron variant | T/G | snv | 5.3E-02 | 1 | ||
rs28381126 | 1.000 | 0.040 | 15 | 48337916 | intron variant | G/T | snv | 3.3E-02 | 1 | ||
rs3784619 | 1.000 | 0.040 | 15 | 48333741 | intron variant | G/A | snv | 0.80 | 1 |