Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs780261665 | 0.827 | 0.200 | 3 | 48590258 | stop gained | G/A | snv | 2.0E-05 | 1.4E-05 | 9 | |
rs760297650 | 17 | 40022789 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 1 | |||
rs267606959 | 0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 | 15 | ||
rs559634261 | 1 | 39318497 | missense variant | G/A | snv | 2.0E-05 | 1 | ||||
rs181109321 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 15 | ||
rs121912855 | 0.851 | 0.200 | 3 | 48575218 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 15 | |
rs143130309 | 12 | 110163027 | missense variant | C/A;T | snv | 2.0E-05 | 1 | ||||
rs527656756 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 21 | |
rs312262690 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 28 | ||
rs763505389 | 17 | 78491549 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | |||
rs755081350 | 1 | 39485559 | missense variant | G/A | snv | 1.6E-05 | 1 | ||||
rs28933068 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 17 | ||
rs746040003 | 13 | 114018810 | frameshift variant | TCAG/- | delins | 1.6E-05 | 1 | ||||
rs769603301 | 16 | 72811684 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 1 | ||||
rs373957300 | 0.882 | 0.160 | 14 | 105228832 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 7 | |
rs369634007 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 10 | |
rs1014959895 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 16 | ||
rs747262678 | 1 | 228279343 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |||
rs121912854 | 0.851 | 0.200 | 3 | 48592915 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 16 | |
rs761469100 | 12 | 110128960 | missense variant | C/T | snv | 1.2E-05 | 1 | ||||
rs121918459 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 46 | |
rs776593168 | 1 | 19167086 | missense variant | G/A;C | snv | 1.2E-05; 1.2E-05 | 1 | ||||
rs144709443 | 1 | 19155051 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |||
rs771829423 | 20 | 35938989 | missense variant | G/A | snv | 1.2E-05 | 1 | ||||
rs200034765 | 10 | 69247416 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 1 |