Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3134614 | 1.000 | 0.040 | 1 | 39897382 | missense variant | G/C | snv | 0.89 | 0.91 | 1 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs7969931 | 0.851 | 0.080 | 12 | 25089661 | missense variant | C/A;G | snv | 1.6E-05; 0.75 | 5 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs7813 | 0.689 | 0.360 | 17 | 744946 | missense variant | G/A;C | snv | 0.63 | 22 | ||
rs4072037 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 22 | ||
rs238406 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 23 | |
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs13180 | 0.851 | 0.160 | 15 | 78497146 | synonymous variant | C/T | snv | 0.54 | 0.51 | 7 | |
rs1908946 | 1.000 | 0.040 | 12 | 25090181 | missense variant | G/A;C | snv | 0.54 | 1 | ||
rs11048413 | 1.000 | 0.040 | 12 | 26122622 | missense variant | G/A | snv | 0.53 | 0.38 | 1 | |
rs1050171 | 0.851 | 0.120 | 7 | 55181370 | missense variant | G/A;C | snv | 0.52; 4.0E-06 | 6 | ||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs2072454 | 0.763 | 0.160 | 7 | 55146655 | synonymous variant | C/T | snv | 0.51 | 0.51 | 9 | |
rs6505162 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 25 | ||
rs1057941 | 0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 | 18 | ||
rs1042713 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 63 | |
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs2229765 | 0.807 | 0.280 | 15 | 98934996 | synonymous variant | G/A | snv | 0.40 | 0.39 | 7 | |
rs10842496 | 1.000 | 0.040 | 12 | 25158555 | missense variant | G/A;T | snv | 2.8E-04; 0.33 | 1 | ||
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 58 | |
rs595961 | 0.807 | 0.160 | 1 | 35902179 | intron variant | A/G | snv | 0.30 | 0.37 | 6 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 |