Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs744373 | 0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 | 8 | ||
rs371557337 | 1.000 | 0.040 | 5 | 150733475 | start lost | T/C;G | snv | 7.0E-06 | 2 | ||
rs200538373 | 0.925 | 0.120 | 19 | 1061893 | splice region variant | G/A;C | snv | 2.5E-03 | 2 | ||
rs767006697 | 0.925 | 0.080 | 16 | 3254658 | frameshift variant | C/- | delins | 2 | |||
rs2234246 | 0.827 | 0.240 | 6 | 41276002 | 3 prime UTR variant | C/T | snv | 0.44 | 5 | ||
rs10097505 | 0.925 | 0.120 | 8 | 142612823 | 3 prime UTR variant | G/A | snv | 0.47 | 2 | ||
rs62093482 | 1.000 | 0.040 | 18 | 31598936 | 3 prime UTR variant | C/T | snv | 1.8E-02 | 1 | ||
rs9331888 | 0.827 | 0.200 | 8 | 27611345 | 5 prime UTR variant | C/G | snv | 0.35 | 0.28 | 5 | |
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs12218 | 0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 | 11 | |
rs759304648 | 0.790 | 0.240 | 9 | 121312479 | synonymous variant | G/A | snv | 8.0E-05 | 3.5E-05 | 9 | |
rs920832709 | 0.851 | 0.200 | 9 | 121321384 | synonymous variant | G/T | snv | 4 | |||
rs2279590 | 0.851 | 0.200 | 8 | 27598736 | non coding transcript exon variant | T/C | snv | 0.69 | 5 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs61752717 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 72 | ||
rs28933979 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 70 | ||
rs121912438 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 58 | ||
rs3743930 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 43 | ||
rs76992529 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 36 | |
rs237025 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 26 | |
rs4149584 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 24 | ||
rs63750231 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 23 | |||
rs1475170339 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 18 | |||
rs781049584 | 0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 | 18 |