Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1805009 | 0.790 | 0.280 | 16 | 89920138 | missense variant | G/A;C | snv | 4.0E-06; 9.1E-03 | 9 | ||
rs121918166 | 0.925 | 0.160 | 15 | 27985101 | missense variant | C/T | snv | 3.0E-03 | 3.4E-03 | 5 | |
rs141949212 | 0.882 | 0.160 | 15 | 27845052 | missense variant | C/T | snv | 4.0E-05 | 2.0E-04 | 5 | |
rs74653330 | 0.851 | 0.200 | 15 | 27983407 | missense variant | C/T | snv | 8.4E-03 | 6.2E-03 | 5 | |
rs121918167 | 0.925 | 0.160 | 15 | 27871170 | missense variant | G/A | snv | 1.1E-04 | 2.2E-04 | 4 | |
rs121918170 | 1.000 | 0.160 | 15 | 27983383 | missense variant | T/A;C | snv | 3.5E-04 | 4.2E-04 | 3 | |
rs281865424 | 0.925 | 0.160 | 9 | 12702424 | missense variant | G/A;T | snv | 2.8E-05 | 2 | ||
rs143218168 | 0.925 | 0.160 | 15 | 27985173 | missense variant | G/A;C | snv | 2.2E-04; 8.1E-06 | 2 | ||
rs144812594 | 0.925 | 0.160 | 15 | 27986615 | missense variant | G/A | snv | 6.4E-05 | 2.3E-04 | 2 | |
rs1555375711 | 0.925 | 0.160 | 15 | 28018397 | splice acceptor variant | GCTGTGGCCGCCGCCACCTGGAGCCCAAAGCGTCAGCCTGGGTCAGCTCCACCACGATGTGCTCTTCCCTCCCAGGACGACTCGGCCCACTGGCCACTAGGGCCCCTGCCAGGTCCACCTGCAGCAGCGTGGAGTCCACGTGGCTGCTAAGGTTCACGGCT/- | delins | 2 | |||
rs368124046 | 1.000 | 0.160 | 15 | 27983340 | splice region variant | C/T | snv | 4.0E-06 | 7.7E-05 | 2 | |
rs776814755 | 1.000 | 0.160 | 15 | 27851390 | missense variant | C/T | snv | 3.2E-05 | 7.0E-06 | 2 | |
rs61754378 | 0.925 | 0.160 | 11 | 89191320 | missense variant | C/G | snv | 2 | |||
rs373224783 | 1.000 | 0.160 | 16 | 89919770 | missense variant | C/A;G | snv | 2.9E-05; 4.9E-05 | 1 | ||
rs747777879 | 1.000 | 0.160 | 16 | 89919775 | inframe deletion | GTC/- | delins | 2.2E-04 | 1 | ||
rs121918168 | 1.000 | 0.160 | 15 | 28014819 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs121918169 | 1.000 | 0.160 | 15 | 27926169 | missense variant | C/G | snv | 9.2E-05 | 4.9E-05 | 1 | |
rs121918171 | 1.000 | 0.160 | 15 | 27989601 | missense variant | C/T | snv | 1.2E-05 | 1 | ||
rs1255943449 | 1.000 | 0.160 | 15 | 27755426 | missense variant | A/G | snv | 8.0E-06 | 1 | ||
rs1372200062 | 1.000 | 0.160 | 15 | 27951838 | missense variant | C/T | snv | 4.2E-05 | 1 | ||
rs137956605 | 1.000 | 0.160 | 15 | 27989630 | missense variant | A/T | snv | 4.9E-04 | 2.1E-03 | 1 | |
rs140566426 | 1.000 | 0.160 | 15 | 27985092 | missense variant | T/C | snv | 1.6E-04 | 4.3E-04 | 1 | |
rs141545475 | 1.000 | 0.160 | 15 | 27871240 | missense variant | G/A | snv | 2.8E-05 | 2.8E-05 | 1 | |
rs1555391997 | 1.000 | 0.160 | 15 | 28081704 | frameshift variant | C/- | delins | 1 | |||
rs1555392037 | 1.000 | 0.160 | 15 | 28081747 | frameshift variant | GCTCCCCG/- | delins | 1 |