Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs8099917 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 60 | ||
rs3024505 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 10 | ||
rs13194491 | 1.000 | 0.040 | 6 | 27069301 | intergenic variant | C/T | snv | 4.8E-02 | 5 | ||
rs12762549 | 1.000 | 0.040 | 10 | 99861014 | intergenic variant | C/G;T | snv | 1 | |||
rs363717 | 1.000 | 0.040 | 9 | 104782419 | 3 prime UTR variant | C/T | snv | 0.85 | 1 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs866082104 | 0.925 | 0.120 | X | 75053456 | missense variant | C/T | snv | 3 | |||
rs373533 | 0.925 | 0.160 | 19 | 6919613 | missense variant | A/C | snv | 0.77 | 0.73 | 2 | |
rs1554544862 | 1.000 | 0.040 | 8 | 41694003 | frameshift variant | TGGAACTTCCGGCGCCGGGG/- | delins | 1 | |||
rs662799 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 33 | ||
rs6568431 | 0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 | 7 | ||
rs2245214 | 0.827 | 0.240 | 6 | 106214866 | intron variant | C/G | snv | 0.42 | 6 | ||
rs121908117 | 0.708 | 0.440 | 3 | 48466707 | missense variant | G/A | snv | 17 | |||
rs6051702 | 0.882 | 0.120 | 20 | 3271278 | intron variant | A/C | snv | 0.19 | 3 | ||
rs1375515 | 1.000 | 0.040 | 3 | 54442613 | intron variant | C/T | snv | 0.58 | 1 | ||
rs1868505 | 1.000 | 0.040 | 3 | 54387228 | intron variant | T/C | snv | 0.86 | 1 | ||
rs1934951 | 0.925 | 0.160 | 10 | 95038791 | intron variant | C/T | snv | 0.24 | 4 | ||
rs1617640 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 15 | |||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs1057520529 | 0.851 | 0.320 | X | 49251440 | missense variant | C/T | snv | 5 | |||
rs1057516674 | 0.882 | 0.160 | 17 | 42901026 | frameshift variant | GT/- | del | 5 | |||
rs1050828 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 15 | |
rs1050829 | 0.827 | 0.160 | X | 154535277 | missense variant | T/A;C | snv | 1.7E-04; 2.6E-02 | 5 |