Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2621416 | 0.882 | 0.280 | 6 | 32774091 | intergenic variant | T/C | snv | 0.26 | 4 | ||
rs2647045 | 6 | 32700323 | TF binding site variant | G/A | snv | 0.27 | 1 | ||||
rs4530903 | 6 | 32614112 | intergenic variant | C/T | snv | 0.10 | 1 | ||||
rs11466782 | 0.925 | 0.120 | 5 | 157494947 | intron variant | A/G | snv | 0.10 | 3 | ||
rs1057519781 | 0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv | 9 | |||
rs2231231 | 0.851 | 0.240 | 9 | 33442988 | non coding transcript exon variant | A/C | snv | 0.67 | 0.69 | 5 | |
rs17655 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 52 | |
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs2466571 | 0.925 | 0.120 | 1 | 207766701 | intron variant | G/T | snv | 0.46 | 3 | ||
rs751837 | 0.882 | 0.120 | 14 | 103018488 | intron variant | T/C | snv | 0.23 | 4 | ||
rs11547328 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 27 | ||
rs10190751 | 0.882 | 0.120 | 2 | 201141373 | splice acceptor variant | G/A | snv | 0.18 | 0.26 | 4 | |
rs74790047 | 0.851 | 0.120 | 12 | 6601978 | missense variant | A/C;G | snv | 2.0E-05; 1.2E-04; 5.2E-03 | 1.7E-03 | 7 | |
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
rs2227307 | 0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 | 6 | ||
rs1802710 | 14 | 100734308 | synonymous variant | T/A;C | snv | 0.63 | 3 | ||||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs867329357 | 0.925 | 0.120 | 13 | 102872275 | missense variant | G/A | snv | 4.0E-06 | 4.9E-05 | 3 | |
rs267601394 | 0.807 | 0.200 | 7 | 148811635 | missense variant | T/A;G | snv | 8 | |||
rs267601395 | 0.925 | 0.160 | 7 | 148811636 | missense variant | A/G;T | snv | 7 | |||
rs1057519833 | 0.925 | 0.120 | 7 | 148809375 | missense variant | G/C | snv | 3 | |||
rs121913482 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 45 |