Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886040971 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 56 | |||
rs771237928 | 0.752 | 0.280 | 1 | 119915813 | frameshift variant | G/-;GG | delins | 14 | |||
rs1060499548 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 27 | |||
rs1564341846 | 0.790 | 0.280 | 9 | 131508926 | missense variant | C/A | snv | 8 | |||
rs1557182317 | 0.925 | 0.160 | X | 154379790 | frameshift variant | -/T | delins | 3 | |||
rs1553525325 | 0.807 | 0.120 | 2 | 166002716 | missense variant | A/T | snv | 9 | |||
rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 | |
rs77078070 | 0.742 | 0.280 | 7 | 23165737 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 26 | |
rs1060502227 | 0.851 | 0.120 | 2 | 32136593 | missense variant | C/G;T | snv | 6 | |||
rs1555743003 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 58 | |||
rs1555731819 | 0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv | 26 | |||
rs1555954284 | 0.752 | 0.360 | X | 41346607 | missense variant | C/T | snv | 24 | |||
rs1057520063 | 0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins | 13 | |||
rs1556425596 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 37 | |||
rs150168522 | 0.925 | 0.160 | 21 | 46132367 | missense variant | G/A;C | snv | 4.9E-05; 2.9E-05 | 4 | ||
rs786205124 | 0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 | 35 | ||
rs387907145 | 0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv | 35 | |||
rs137854466 | 0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 | 23 | ||
rs137854461 | 0.790 | 0.280 | 15 | 48437026 | missense variant | T/C | snv | 12 | |||
rs113871094 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 34 | |||
rs397515804 | 0.776 | 0.200 | 15 | 48472628 | missense variant | C/A;T | snv | 11 | |||
rs775011495 | 0.925 | 0.040 | 15 | 51404403 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 5 | |
rs1556913258 | 0.851 | 0.280 | X | 53536580 | missense variant | G/C | snv | 7 | |||
rs1556913268 | 0.851 | 0.240 | X | 53536600 | missense variant | T/A | snv | 6 | |||
rs387907260 | 0.776 | 0.280 | 7 | 66633410 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 22 |