Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs1564045331 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 35 | |||
rs778543124 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 35 | |
rs1800975 | 0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 | 19 | ||
rs1805329 | 0.732 | 0.400 | 9 | 107322047 | missense variant | C/T | snv | 0.20 | 0.16 | 15 | |
rs776223836 | 0.763 | 0.280 | 19 | 45364045 | missense variant | G/A | snv | 11 | |||
rs767551092 | 0.790 | 0.200 | 3 | 14164838 | missense variant | G/A | snv | 4.0E-06 | 10 | ||
rs778990691 | 0.807 | 0.240 | 5 | 87395069 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs1402607735 | 0.925 | 0.160 | 19 | 43575436 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs104894132 | 0.925 | 0.160 | 9 | 97675579 | stop gained | G/A | snv | 3.0E-04 | 3.2E-04 | 2 | |
rs104894133 | 1.000 | 0.160 | 9 | 97684977 | stop gained | G/A | snv | 2.4E-05 | 2 | ||
rs1200172747 | 0.925 | 0.160 | 9 | 97689570 | frameshift variant | TAAGA/- | delins | 4.0E-06 | 2.1E-05 | 2 | |
rs149226993 | 0.925 | 0.160 | 9 | 97684965 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
rs1554701103 | 0.925 | 0.160 | 9 | 97684929 | frameshift variant | -/T | delins | 2 | |||
rs769255883 | 1.000 | 0.160 | 9 | 97689592 | stop gained | C/A;G;T | snv | 1.2E-05; 5.6E-05 | 2 | ||
rs1019535182 | 1.000 | 0.160 | 9 | 97684921 | splice donor variant | A/G | snv | 1 | |||
rs104894131 | 1.000 | 0.160 | 9 | 97689600 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs104894134 | 1.000 | 0.160 | 9 | 97689575 | stop gained | A/G;T | snv | 4.0E-06 | 1 | ||
rs1057519018 | 1.000 | 0.160 | 9 | 97684947 | frameshift variant | CT/- | delins | 4.0E-06 | 1 | ||
rs1240801740 | 1.000 | 0.160 | 9 | 97687191 | stop gained | CA/- | delins | 4.0E-06 | 7.0E-06 | 1 | |
rs1253496792 | 1.000 | 0.160 | 9 | 97697291 | start lost | A/G | snv | 1 | |||
rs1326841833 | 1.000 | 0.160 | 9 | 97687118 | frameshift variant | -/T | delins | 4.0E-06 | 1 | ||
rs144725456 | 1.000 | 0.160 | 9 | 97675530 | missense variant | T/C | snv | 1.3E-04 | 7.7E-05 | 1 | |
rs1554699296 | 1.000 | 0.160 | 9 | 97675528 | frameshift variant | -/A | delins | 1 |