Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs199682734 | 6 | 154118718 | synonymous variant | C/T | snv | 8.1E-06 | 7.0E-06 | 1 | |||
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 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs1289543302 | 0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv | 12 | |||
rs4646437 | 0.827 | 0.200 | 7 | 99767460 | intron variant | G/A | snv | 0.30 | 8 | ||
rs4719714 | 1.000 | 0.080 | 7 | 22721094 | intron variant | A/T | snv | 0.21 | 5 | ||
rs181109321 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 17 | ||
rs574584 | 8 | 26866167 | intron variant | C/G;T | snv | 1 | |||||
rs1212171 | 0.851 | 0.120 | 9 | 84667612 | upstream gene variant | C/T | snv | 0.50 | 8 | ||
rs551423795 | 0.925 | 0.080 | 9 | 110687218 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 | 4 | |
rs756877019 | 1.000 | 9 | 110800760 | missense variant | G/C | snv | 4.0E-06 | 3 | |||
rs864321670 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 24 | |||
rs3740071 | 10 | 99830363 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs6277 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 36 | |
rs11214105 | 1.000 | 0.120 | 11 | 112166930 | intron variant | G/A | snv | 0.25 | 2 | ||
rs121918459 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 47 | |
rs4570625 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 25 | ||
rs34778348 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 15 | |
rs1082214 | 0.925 | 0.080 | 12 | 56452706 | non coding transcript exon variant | C/T | snv | 9.3E-02 | 6 | ||
rs36010656 | 0.925 | 0.080 | 12 | 20711408 | missense variant | C/A;T | snv | 3.4E-02 | 4 | ||
rs2293052 | 1.000 | 0.040 | 12 | 117277815 | intron variant | G/A | snv | 0.28 | 2 | ||
rs9658498 | 12 | 117230720 | intron variant | A/C;G | snv | 1 |