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 | |
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
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 | ||
rs653178 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 41 | ||
rs10889677 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 40 | ||
rs780093 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 30 | ||
rs4072037 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 22 | ||
rs2074755 | 0.807 | 0.240 | 7 | 73462836 | non coding transcript exon variant | T/C | snv | 9.2E-02 | 20 | ||
rs7517847 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 19 | ||
rs11065987 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 17 | ||
rs142433332 | 0.807 | 0.160 | 1 | 173831632 | splice donor variant | T/A;C;G | snv | 8.0E-06; 3.3E-04; 4.0E-06 | 14 | ||
rs1553201258 | 0.807 | 0.160 | 1 | 173828312 | non coding transcript exon variant | TT/C | delins | 14 | |||
rs2231137 | 0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 | 13 | |
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 | ||
rs780092 | 0.827 | 0.160 | 2 | 27520287 | intron variant | A/G | snv | 0.18 | 10 | ||
rs2068834 | 0.925 | 0.120 | 2 | 27616672 | intron variant | T/C | snv | 0.28 | 10 | ||
rs2079742 | 0.851 | 0.240 | 17 | 61388336 | non coding transcript exon variant | T/C | snv | 0.20 | 9 | ||
rs2244608 | 0.882 | 0.160 | 12 | 120979185 | intron variant | A/G | snv | 0.29 | 9 | ||
rs17050272 | 0.882 | 0.120 | 2 | 120548864 | upstream gene variant | G/A | snv | 0.33 | 9 | ||
rs9472135 | 0.925 | 0.120 | 6 | 43842065 | intron variant | T/A;C;G | snv | 9 |