Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1162592300 | 0.925 | 0.080 | 4 | 73412045 | missense variant | G/A | snv | 3 | |||
rs370819889 | 0.925 | 0.080 | 4 | 73416353 | missense variant | C/A;T | snv | 8.0E-06; 9.6E-05 | 2 | ||
rs777476179 | 0.851 | 0.280 | 2 | 73448259 | frameshift variant | A/- | del | 1.4E-05 | 5 | ||
rs73885319 | 0.851 | 0.120 | 22 | 36265860 | missense variant | A/G | snv | 1.6E-02 | 6.6E-02 | 6 | |
rs60910145 | 0.851 | 0.120 | 22 | 36265988 | missense variant | T/G | snv | 1.6E-02 | 6.6E-02 | 5 | |
rs11089781 | 0.925 | 0.080 | 22 | 36160720 | stop gained | G/A | snv | 1.6E-02 | 6.5E-02 | 2 | |
rs3759126 | 0.882 | 0.080 | 12 | 49950079 | upstream gene variant | A/G | snv | 0.23 | 3 | ||
rs1800469 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 78 | ||
rs5355 | 0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 | 14 | |
rs1801725 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 39 | |
rs1042636 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 23 | |
rs1801726 | 0.732 | 0.280 | 3 | 122284985 | missense variant | G/C | snv | 0.95 | 0.92 | 13 | |
rs756322971 | 0.763 | 0.240 | 3 | 122284955 | missense variant | C/A;G | snv | 9 | |||
rs4730751 | 0.882 | 0.120 | 7 | 116540796 | intron variant | C/A | snv | 0.22 | 4 | ||
rs4281481 | 0.882 | 0.080 | 11 | 22859013 | intron variant | C/G | snv | 0.36 | 3 | ||
rs2294021 | 0.776 | 0.280 | X | 49249149 | intron variant | T/A;C | snv | 0.52 | 8 | ||
rs4586 | 0.790 | 0.280 | 17 | 34256250 | synonymous variant | T/C | snv | 0.44 | 0.48 | 8 | |
rs1020608562 | 0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 | 9 | ||
rs6936632 | 0.925 | 0.080 | 6 | 47588297 | intron variant | G/A | snv | 7.6E-02 | 2 | ||
rs9349417 | 0.925 | 0.080 | 6 | 47612921 | intron variant | A/G | snv | 0.27 | 2 | ||
rs9369717 | 0.925 | 0.080 | 6 | 47586732 | intron variant | T/G | snv | 0.22 | 2 | ||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs121913059 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 16 | |
rs379489 | 0.851 | 0.200 | 1 | 196724321 | intron variant | A/G | snv | 0.65 | 4 |