Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518886 | 11 | 119090043 | frameshift variant | C/- | delins | 5 | |||||
rs864309530 | 1 | 235806165 | missense variant | G/T | snv | 3 | |||||
rs104895358 | 12 | 109595148 | missense variant | G/A | snv | 1.2E-05 | 2 | ||||
rs3832879 | 12 | 4372733 | non coding transcript exon variant | -/A;G | ins | 4.0E-06; 0.12; 4.0E-06; 4.0E-06 | 0.10 | 2 | |||
rs62641689 | 15 | 73323818 | missense variant | C/A;T | snv | 3.2E-03 | 2 | ||||
rs7805622 | 7 | 56483270 | non coding transcript exon variant | A/G;T | snv | 2 | |||||
rs876538 | 1 | 159705927 | upstream gene variant | T/A;C | snv | 2 | |||||
rs1204135596 | 1 | 247425398 | missense variant | A/G | snv | 4.0E-06 | 1 | ||||
rs1424748509 | 12 | 6330859 | missense variant | C/T | snv | 4.0E-06 | 1 | ||||
rs2808635 | 1 | 159724419 | intergenic variant | G/C;T | snv | 1 | |||||
rs41550816 | 6 | 31271178 | missense variant | C/T | snv | 1 | |||||
rs755789256 | 4 | 55868434 | missense variant | G/A | snv | 2.8E-05 | 1.3E-04 | 1 | |||
rs766778566 | 16 | 3243532 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 1 | |||
rs781431904 | 14 | 73192663 | missense variant | A/G | snv | 1.2E-05 | 1 | ||||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs61752717 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 72 | ||
rs1051266 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 41 | ||
rs3804100 | 0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 | 36 | |
rs4149584 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 24 | ||
rs35829419 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 23 | |
rs2069705 | 0.695 | 0.440 | 12 | 68161231 | intron variant | G/A;C | snv | 19 |