Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 62 | ||
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 56 | ||
rs4149056 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 45 | |
rs653178 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 41 | ||
rs334 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 35 | ||
rs1047891 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 34 | |
rs8050136 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 32 | ||
rs780093 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 30 | ||
rs11066280 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 27 | ||
rs79105258 | 12 | 111280427 | intron variant | C/A;T | snv | 24 | |||||
rs3782886 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 22 | |
rs4072037 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 22 | ||
rs1169288 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 21 | ||
rs1800961 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 21 | |
rs17696736 | 0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 | 18 | ||
rs198851 | 6 | 26104404 | downstream gene variant | T/A;C;G | snv | 15 | |||||
rs174594 | 0.776 | 0.160 | 11 | 61852357 | intron variant | C/A;T | snv | 14 | |||
rs10774625 | 0.763 | 0.320 | 12 | 111472415 | intron variant | A/G | snv | 0.66 | 13 | ||
rs1260333 | 0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 | 12 | ||
rs17145738 | 0.851 | 0.200 | 7 | 73568544 | 3 prime UTR variant | C/T | snv | 0.11 | 11 | ||
rs9895661 | 0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 | 10 | ||
rs10857147 | 1.000 | 0.040 | 4 | 80259918 | intergenic variant | A/T | snv | 0.25 | 9 | ||
rs2472297 | 0.882 | 0.160 | 15 | 74735539 | intergenic variant | C/T | snv | 0.16 | 9 |