Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 34 | |
rs4246905 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 15 | ||
rs2227564 | 0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 | 3 | |
rs3810936 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 1 | |
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 61 | ||
rs6795970 | 0.807 | 0.200 | 3 | 38725184 | missense variant | A/G | snv | 0.65 | 0.70 | 3 | |
rs2274910 | 0.827 | 0.200 | 1 | 160882256 | non coding transcript exon variant | T/C | snv | 0.65 | 0.58 | 1 | |
rs449454 | 0.925 | 0.080 | 5 | 142153497 | 3 prime UTR variant | A/G | snv | 0.65 | 0.68 | 3 | |
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 55 | |
rs12103 | 0.925 | 0.040 | 1 | 1312114 | synonymous variant | T/A;C;G | snv | 0.56 | 3 | ||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 1 | ||
rs1042058 | 1.000 | 0.040 | 10 | 30439172 | synonymous variant | T/C | snv | 0.51 | 0.45 | 2 | |
rs1990760 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 7 | |
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 1 | ||
rs2274351 | 10 | 102504350 | intron variant | C/G;T | snv | 0.48 | 1 | ||||
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 7 | ||
rs721917 | 0.752 | 0.360 | 10 | 79946568 | missense variant | A/G | snv | 0.47 | 0.42 | 1 | |
rs2241880 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 1 | |
rs12994997 | 1.000 | 0.040 | 2 | 233264857 | intron variant | G/A;C | snv | 0.45; 4.0E-06 | 2 | ||
rs1292053 | 1.000 | 0.040 | 17 | 59886176 | missense variant | A/G | snv | 0.45 | 0.46 | 2 | |
rs1250569 | 0.925 | 0.040 | 10 | 79285450 | intron variant | T/C | snv | 0.44 | 0.51 | 1 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 2 | |
rs10781499 | 0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 | 3 | |
rs4077515 | 0.763 | 0.360 | 9 | 136372044 | missense variant | C/A;T | snv | 4.0E-06; 0.41 | 4 | ||
rs501916 | 1.000 | 0.040 | 15 | 47761032 | synonymous variant | C/A | snv | 0.40 | 0.41 | 2 |