Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3025039 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 62 | ||
rs10434 | 0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 | 17 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 98 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs160277 | 0.925 | 0.080 | 5 | 83541812 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 0.38 | 2 | ||
rs1529916 | 0.851 | 0.120 | 16 | 8897333 | intron variant | G/A | snv | 0.26 | 4 | ||
rs2294693 | 1.000 | 0.080 | 6 | 41037763 | intron variant | T/C | snv | 0.26 | 2 | ||
rs34743033 | 0.776 | 0.200 | 18 | 657657 | 5 prime UTR variant | GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG | delins | 8 | |||
rs7536272 | 0.925 | 0.080 | 1 | 46177421 | intron variant | A/G | snv | 0.22 | 2 | ||
rs230310 | 0.925 | 0.080 | 1 | 39842047 | intron variant | A/G;T | snv | 3 | |||
rs1141023 | 0.925 | 0.080 | 3 | 160439163 | synonymous variant | C/T | snv | 0.15 | 0.14 | 2 | |
rs2070803 | 0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 | 3 | ||
rs9426886 | 0.851 | 0.200 | 1 | 155179278 | intron variant | A/T | snv | 0.40 | 2 | ||
rs11254413 | 0.851 | 0.120 | 10 | 17162188 | missense variant | G/A | snv | 0.41 | 0.44 | 4 | |
rs3737589 | 0.925 | 0.080 | 1 | 3746281 | splice region variant | A/G | snv | 0.38 | 2 | ||
rs7515164 | 0.925 | 0.080 | 1 | 3738183 | non coding transcript exon variant | C/A | snv | 0.15 | 2 | ||
rs35592567 | 0.827 | 0.160 | 3 | 189896847 | 3 prime UTR variant | C/G;T | snv | 6 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1011445550 | 0.925 | 0.080 | 17 | 7676391 | missense variant | G/C | snv | 2 | |||
rs3793964 | 0.882 | 0.120 | 11 | 1280752 | intron variant | T/C | snv | 0.66 | 3 | ||
rs11656976 | 0.925 | 0.080 | 17 | 50869478 | intron variant | T/A;C | snv | 2 | |||
rs34700818 | 0.925 | 0.080 | 17 | 50868392 | intron variant | C/T | snv | 0.26 | 2 | ||
rs12601477 | 0.925 | 0.080 | 17 | 50868277 | non coding transcript exon variant | G/A;T | snv | 2 |