Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
rs1800469 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 78 | ||
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs4444903 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 35 | ||
rs28934571 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 31 | |||
rs763110 | 0.653 | 0.560 | 1 | 172658358 | upstream gene variant | C/T | snv | 0.49 | 30 | ||
rs61764370 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 29 | ||
rs7120118 | 0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 | 18 | ||
rs2695121 | 0.716 | 0.280 | 19 | 50377484 | 5 prime UTR variant | T/C | snv | 0.70 | 16 | ||
rs3808607 | 0.716 | 0.400 | 8 | 58500365 | upstream gene variant | G/T | snv | 0.55 | 16 | ||
rs7922612 | 0.752 | 0.080 | 10 | 94051682 | intron variant | C/T | snv | 0.39 | 14 | ||
rs11954856 | 0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 | 12 | ||
rs2486758 | 0.742 | 0.160 | 10 | 102837723 | upstream gene variant | T/C | snv | 0.18 | 11 | ||
rs3824260 | 0.742 | 0.160 | 8 | 58500631 | upstream gene variant | A/G;T | snv | 11 | |||
rs4791171 | 0.763 | 0.080 | 17 | 65545379 | intron variant | T/C | snv | 0.55 | 11 | ||
rs6557634 | 0.763 | 0.080 | 8 | 23202743 | missense variant | T/C | snv | 11 | |||
rs35463555 | 0.776 | 0.160 | 19 | 50374423 | intron variant | G/A | snv | 0.29 | 8 | ||
rs1157 | 0.790 | 0.080 | 3 | 105576617 | 3 prime UTR variant | G/A | snv | 0.16 | 7 | ||
rs4595552 | 0.790 | 0.080 | 11 | 125865825 | intergenic variant | C/G;T | snv | 7 | |||
rs909629195 | 0.790 | 0.080 | 17 | 38914448 | missense variant | C/T | snv | 7 | |||
rs951540403 | 0.790 | 0.080 | 10 | 94132433 | missense variant | G/C | snv | 7 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 |