Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs779071898 | 0.925 | 0.080 | 11 | 46739072 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 2 | |
rs762607581 | 1.000 | 0.040 | 11 | 46739317 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs751377893 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 65 | ||
rs6025 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 43 | ||
rs1164821473 | 0.925 | 0.080 | 1 | 169546573 | missense variant | T/A;C | snv | 2 | |||
rs118203905 | 1.000 | 0.040 | 1 | 169555300 | missense variant | T/C | snv | 6.9E-04 | 2.0E-04 | 2 | |
rs556266847 | 1.000 | 0.040 | 1 | 169550655 | missense variant | A/G | snv | 1 | |||
rs6048 | 1.000 | 0.040 | X | 139551121 | missense variant | A/G | snv | 0.22 | 0.23 | 2 | |
rs422187 | 1.000 | 0.040 | X | 139550700 | intron variant | A/C;G | snv | 1 | |||
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs6050 | 0.827 | 0.120 | 4 | 154586438 | missense variant | T/A;C | snv | 0.29 | 10 | ||
rs121909613 | 0.882 | 0.160 | 4 | 154585712 | splice acceptor variant | G/A;C;T | snv | 4.8E-05; 4.0E-06 | 5 | ||
rs2066865 | 0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 | 10 | ||
rs114209171 | 0.882 | 0.120 | X | 155050522 | non coding transcript exon variant | T/C | snv | 0.23 | 5 | ||
rs1613662 | 0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 | 8 | |
rs7080536 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 27 | |
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs5918 | 0.683 | 0.480 | 17 | 47283364 | missense variant | T/C | snv | 0.12 | 0.13 | 26 | |
rs2000813 | 0.763 | 0.200 | 18 | 49567494 | missense variant | C/A;T | snv | 4.0E-06; 0.27; 4.0E-06 | 0.23 | 9 | |
rs6507931 | 0.882 | 0.080 | 18 | 49586638 | intron variant | C/T | snv | 0.52 | 3 | ||
rs2097055 | 0.925 | 0.040 | 18 | 49569117 | intron variant | T/C | snv | 0.55 | 2 | ||
rs121918156 | 0.882 | 0.120 | 2 | 127427219 | missense variant | C/T | snv | 3 | |||
rs1321566264 | 0.925 | 0.120 | 2 | 127428522 | missense variant | C/T | snv | 1.4E-05 | 2 | ||
rs773761677 | 1.000 | 0.040 | 2 | 127428444 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs5940 | 0.882 | 0.080 | 2 | 187466977 | missense variant | C/T | snv | 1.3E-02 | 1.4E-02 | 3 |