Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 60 | ||
rs1047972 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 19 | |
rs4245739 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 19 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs7813 | 0.689 | 0.360 | 17 | 744946 | missense variant | G/A;C | snv | 0.63 | 22 | ||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs4072037 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 16 | ||
rs238406 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 23 | |
rs2424913 | 0.708 | 0.440 | 20 | 32786453 | intron variant | C/T | snv | 0.56 | 0.53 | 18 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 131 | |
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs5743618 | 0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 | 20 | |
rs1884444 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 34 | |
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 61 | ||
rs1047768 | 0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 | 20 | |
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs2976392 | 0.724 | 0.240 | 8 | 142681514 | 3 prime UTR variant | G/A | snv | 0.46 | 0.45 | 15 | |
rs2294008 | 0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 | 27 | |
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 |