Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs204999 | 0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 | 13 | ||
rs2227139 | 0.925 | 0.160 | 6 | 32445682 | downstream gene variant | G/A | snv | 0.61 | 4 | ||
rs6901541 | 1.000 | 0.120 | 6 | 32474484 | upstream gene variant | T/C;G | snv | 2 | |||
rs7754768 | 1.000 | 0.040 | 6 | 32452402 | regulatory region variant | C/T | snv | 0.56 | 2 | ||
rs12154141 | 6 | 62460168 | downstream gene variant | A/C | snv | 0.20 | 1 | ||||
rs138117677 | 16 | 3348899 | TF binding site variant | GGGACT/- | delins | 2.8E-02 | 1 | ||||
rs200688486 | 6 | 32621223 | regulatory region variant | -/T | delins | 1 | |||||
rs2153486 | 14 | 87737048 | intron variant | C/T | snv | 0.68 | 1 | ||||
rs314879 | 13 | 22735243 | intergenic variant | C/T | snv | 0.78 | 1 | ||||
rs5861895 | 4 | 129344228 | regulatory region variant | TT/-;T;TTT | delins | 1 | |||||
rs62309385 | 4 | 136134743 | intron variant | G/C | snv | 9.8E-02 | 1 | ||||
rs6797827 | 3 | 109735523 | intron variant | C/T | snv | 0.18 | 1 | ||||
rs9271488 | 6 | 32621223 | regulatory region variant | G/T | snv | 0.27 | 1 | ||||
rs3117583 | 0.925 | 0.200 | 6 | 31651799 | 5 prime UTR variant | A/G | snv | 0.14 | 0.17 | 3 | |
rs3130048 | 1.000 | 0.120 | 6 | 31645962 | intron variant | T/C | snv | 0.23 | 3 | ||
rs3130628 | 1.000 | 0.120 | 6 | 31641495 | non coding transcript exon variant | T/C | snv | 0.15 | 0.18 | 2 | |
rs10947261 | 0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 | 4 | ||
rs2294881 | 1.000 | 0.040 | 6 | 32399827 | intron variant | T/C | snv | 0.19 | 3 | ||
rs28362683 | 1.000 | 0.040 | 6 | 32405186 | synonymous variant | G/A | snv | 0.12 | 0.10 | 2 | |
rs28362680 | 6 | 32403039 | missense variant | G/A | snv | 0.14 | 0.12 | 1 | |||
rs3130618 | 0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 | 7 | ||
rs116671518 | 4 | 107189709 | intron variant | T/C | snv | 1.9E-02 | 1 | ||||
rs652888 | 0.776 | 0.480 | 6 | 31883457 | non coding transcript exon variant | A/G | snv | 0.18 | 0.20 | 10 | |
rs1048369 | 0.882 | 0.160 | X | 133303309 | missense variant | G/A | snv | 0.33 | 0.38 | 4 | |
rs3104369 | 6 | 32634705 | intron variant | T/C | snv | 0.71 | 1 |