Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2070874 | 0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 | 27 | |
rs6214 | 0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 | 26 | ||
rs140693 | 0.763 | 0.280 | 3 | 129436608 | missense variant | C/T | snv | 5.8E-02 | 3.1E-02 | 10 | |
rs843711 | 0.790 | 0.200 | 2 | 54251980 | intron variant | C/T | snv | 0.41 | 7 | ||
rs876661188 | 1.000 | 0.080 | 3 | 37050573 | missense variant | C/T | snv | 1 | |||
rs771314938 | 0.807 | 0.160 | 2 | 233682328 | frameshift variant | CG/- | del | 8 | |||
rs879625015 | 0.807 | 0.160 | 2 | 233682328 | frameshift variant | CG/A | delins | 8 | |||
rs386656364 | 0.807 | 0.160 | 2 | 233682328 | missense variant | CG/AA | mnv | 8 | |||
rs63751067 | 1.000 | 0.080 | 2 | 47410244 | frameshift variant | CTAGGACTGTGT/A | delins | 1 | |||
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs1800566 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 59 | |
rs920778 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 36 | ||
rs11549467 | 0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 | 30 | |
rs2839698 | 0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 | 25 | ||
rs4751240 | 0.882 | 0.120 | 10 | 127338145 | intron variant | G/A | snv | 9.0E-02 | 3 | ||
rs41526344 | 0.925 | 0.120 | 3 | 2943458 | intron variant | G/A | snv | 7.5E-02 | 2 | ||
rs1131341 | 0.925 | 0.160 | 16 | 69714966 | missense variant | G/A;C | snv | 3.2E-02 | 2.6E-02 | 4 | |
rs11479 | 0.925 | 0.080 | 22 | 50525807 | stop gained | G/A;C;T | snv | 0.13; 1.3E-05; 4.3E-06 | 2 | ||
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 62 | ||
rs63750447 | 0.716 | 0.200 | 3 | 37025749 | missense variant | T/A | snv | 2.7E-03 | 7.5E-04 | 17 | |
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs17868323 | 0.925 | 0.160 | 2 | 233682324 | missense variant | T/A;G | snv | 0.59 | 2 |