Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11556924 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 21 | ||
rs2243250 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 61 | ||
rs514659 | 0.882 | 0.120 | 9 | 133266790 | intron variant | C/A;T | snv | 10 | |||
rs579459 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 28 | ||
rs2569190 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 39 | ||
rs10741657 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 34 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2234693 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 77 | ||
rs1432422306 | 0.925 | 0.120 | 4 | 154586432 | frameshift variant | TTCCAGT/- | del | 4.0E-06 | 3 | ||
rs6050 | 0.827 | 0.120 | 4 | 154586438 | missense variant | T/A;C | snv | 0.29 | 10 | ||
rs2108622 | 0.742 | 0.280 | 19 | 15879621 | missense variant | C/T | snv | 0.27 | 0.22 | 20 | |
rs3093059 | 0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 | 11 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs751377893 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 65 | ||
rs6136 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 17 | |
rs6131 | 0.851 | 0.200 | 1 | 169611647 | missense variant | C/T | snv | 0.20 | 0.22 | 4 | |
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs1458766475 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 41 | ||
rs1057335 | 0.827 | 0.120 | 17 | 1754359 | missense variant | G/A | snv | 0.22 | 0.20 | 5 | |
rs4918 | 0.763 | 0.400 | 3 | 186620593 | missense variant | G/A;C | snv | 0.67 | 12 | ||
rs689470 | 0.776 | 0.240 | 1 | 186671926 | 3 prime UTR variant | G/A;C;T | snv | 9 | |||
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs1063537 | 0.807 | 0.320 | 3 | 186856286 | 3 prime UTR variant | C/T | snv | 9.6E-02 | 6 |