| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
| rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
| rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
| rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
| rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
| rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
| rs1061622 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 33 | |
| rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 30 | ||
| rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 28 | ||
| rs1130864 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 27 | ||
| rs1805054 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 17 | |
| rs2794521 | 0.742 | 0.480 | 1 | 159715306 | upstream gene variant | C/T | snv | 0.78 | 15 | ||
| rs1417938 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 10 | ||
| rs3093077 | 0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv | 9 | |||
| rs636832 | 0.790 | 0.400 | 1 | 35897874 | intron variant | G/A | snv | 0.23 | 8 | ||
| rs139315125 | 0.851 | 0.080 | 1 | 7809900 | missense variant | A/G | snv | 5.6E-03 | 5.0E-03 | 7 | |
| rs57875989 | 0.882 | 0.080 | 1 | 7829913 | splice acceptor variant | GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC | delins | 0.11 | 0.18 | 7 | |
| rs1415259 | 0.925 | 0.080 | 1 | 162115519 | intron variant | C/T | snv | 0.54 | 5 | ||
| rs228697 | 0.882 | 0.080 | 1 | 7827519 | missense variant | C/G | snv | 8.7E-02 | 7.3E-02 | 5 | |
| rs4648308 | 0.851 | 0.160 | 1 | 186671485 | downstream gene variant | C/T | snv | 0.27 | 5 | ||
| rs1858232 | 0.882 | 0.080 | 1 | 162334048 | intron variant | A/G;T | snv | 4 | |||
| rs2228079 | 0.882 | 0.160 | 1 | 203129147 | synonymous variant | T/G | snv | 0.31 | 0.26 | 4 | |
| rs386231 | 0.882 | 0.080 | 1 | 162356033 | intron variant | C/T | snv | 0.68 | 4 | ||
| rs12137417 | 0.925 | 0.080 | 1 | 231950407 | intron variant | G/A | snv | 0.17 | 3 |