Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs56250509 | 0.790 | 0.160 | 3 | 37014530 | missense variant | T/C | snv | 2.0E-05 | 10 | ||
rs6087990 | 0.925 | 0.080 | 20 | 32762102 | upstream gene variant | T/C;G | snv | 4 | |||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 61 | ||
rs748491031 | 0.827 | 0.120 | 7 | 55200384 | stop gained | C/G;T | snv | 1.2E-05 | 8 | ||
rs759412116 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 55 | ||
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs773919809 | 0.763 | 0.200 | 10 | 129766957 | missense variant | C/T | snv | 2.0E-05 | 13 | ||
rs775144154 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 38 | ||
rs77724903 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 17 | ||
rs779315943 | 0.882 | 0.160 | 2 | 25247708 | frameshift variant | TTTCC/- | del | 5 | |||
rs7813 | 0.689 | 0.360 | 17 | 744946 | missense variant | G/A;C | snv | 0.63 | 22 | ||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 79 | |||
rs79071878 | 0.827 | 0.240 | 5 | 132680652 | intron variant | ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- | del | 7 | |||
rs799917 | 0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 | 18 | ||
rs822395 | 0.776 | 0.240 | 3 | 186849018 | intron variant | C/A;G | snv | 10 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 110 | ||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs909253 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 32 | |||
rs9282861 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 31 | |||
rs758272654 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 50 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs148704956 | 0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 19 | |
rs746702110 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 38 |