Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4725366 | 1.000 | 0.080 | 7 | 150824966 | splice region variant | A/G | snv | 0.81 | 2 | ||
rs1564858 | 8 | 118932927 | splice region variant | G/A | snv | 0.11 | 9.9E-02 | 1 | |||
rs1057518797 | 4 | 88008090 | frameshift variant | CCCGGGCA/TAGGACG | delins | 3 | |||||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs2266788 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 19 | ||
rs7195830 | 0.851 | 0.080 | 16 | 88643304 | 3 prime UTR variant | A/G | snv | 0.62 | 0.69 | 6 | |
rs174545 | 1.000 | 0.080 | 11 | 61801834 | 3 prime UTR variant | C/A;G | snv | 0.28 | 5 | ||
rs12107 | 1.000 | 0.040 | 22 | 36281936 | 3 prime UTR variant | G/A;T | snv | 3 | |||
rs478333 | 2 | 168922646 | 3 prime UTR variant | G/A | snv | 0.46 | 1 | ||||
rs730882222 | 0.925 | 0.040 | 17 | 6707026 | splice donor variant | A/C | snv | 3 | |||
rs174548 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 17 | |||
rs174549 | 0.851 | 0.240 | 11 | 61803910 | 5 prime UTR variant | G/A | snv | 0.26 | 12 | ||
rs6929846 | 0.827 | 0.160 | 6 | 26458037 | 5 prime UTR variant | T/C | snv | 0.70 | 10 | ||
rs1171614 | 0.882 | 0.200 | 10 | 59709780 | 5 prime UTR variant | T/C | snv | 0.79 | 7 | ||
rs174561 | 1.000 | 0.080 | 11 | 61815236 | 5 prime UTR variant | T/C | snv | 0.31 | 0.26 | 3 | |
rs74183647 | 18 | 79396171 | 5 prime UTR variant | G/A;C | snv | 3 | |||||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs3782886 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 22 | |
rs5182 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 16 | |
rs1126616 | 0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 | 8 | |
rs371237692 | 0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 | 5 | |
rs7456421 | 0.882 | 0.120 | 7 | 139715976 | synonymous variant | G/C | snv | 0.27 | 0.37 | 4 | |
rs174537 | 0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 | 23 | ||
rs102275 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 18 |