Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1568952 | 1.000 | 0.080 | 8 | 58799804 | intergenic variant | T/C | snv | 0.75 | 1 | ||
rs1927906 | 1.000 | 0.080 | 9 | 117717837 | 3 prime UTR variant | T/C | snv | 0.20 | 1 | ||
rs2230424 | 1.000 | 0.080 | 16 | 31355997 | missense variant | T/C | snv | 8.6E-02 | 9.0E-02 | 1 | |
rs3092923 | 1.000 | 0.080 | X | 136659026 | intron variant | T/C | snv | 0.17 | 0.28 | 1 | |
rs6761637 | 1.000 | 0.080 | 2 | 118981487 | missense variant | T/C | snv | 8.3E-02 | 0.13 | 1 | |
rs549908 | 0.752 | 0.440 | 11 | 112150193 | synonymous variant | T/A;G | snv | 4.2E-06; 0.29 | 10 | ||
rs2522137 | 0.827 | 0.120 | 12 | 120342128 | 3 prime UTR variant | T/A;C;G | snv | 7 | |||
rs3923647 | 0.925 | 0.080 | 4 | 38797918 | missense variant | T/A;C;G | snv | 2.7E-02; 4.0E-06; 1.6E-05 | 3 | ||
rs5743551 | 0.742 | 0.240 | 4 | 38806033 | intron variant | T/A;C | snv | 12 | |||
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 98 | ||
rs2430561 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 50 | ||
rs17795618 | 1.000 | 0.080 | 2 | 118973892 | intron variant | T/A | snv | 0.12 | 1 | ||
rs9905742 | 1.000 | 0.080 | 17 | 4539780 | missense variant | T/A | snv | 3.0E-02 | 2.7E-02 | 1 | |
rs141555015 | 1.000 | 0.080 | 6 | 32839023 | upstream gene variant | GCTTTGTAATTGGAGAAT/- | delins | 1.4E-05 | 1 | ||
rs386699558 | 0.882 | 0.080 | 6 | 32642624 | missense variant | GCC/ACA | mnv | 3 | |||
rs6127698 | 0.925 | 0.080 | 20 | 56248360 | upstream gene variant | G/T | snv | 0.39 | 2 | ||
rs1371562 | 1.000 | 0.080 | 2 | 118975372 | intron variant | G/T | snv | 0.33 | 1 | ||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs3809849 | 0.882 | 0.120 | 17 | 4555303 | missense variant | G/C;T | snv | 0.21; 3.1E-05 | 3 | ||
rs1372834938 | 0.763 | 0.280 | 2 | 8812465 | missense variant | G/C | snv | 4.2E-06 | 12 | ||
rs10995271 | 0.776 | 0.280 | 10 | 62678726 | downstream gene variant | G/C | snv | 0.32 | 8 | ||
rs11003125 | 0.790 | 0.480 | 10 | 52772254 | upstream gene variant | G/C | snv | 0.31 | 7 | ||
rs1194182 | 1.000 | 0.080 | 7 | 80602188 | 5 prime UTR variant | G/C | snv | 0.53 | 2 | ||
rs1718119 | 0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 21 | ||
rs10759931 | 0.790 | 0.360 | 9 | 117701869 | upstream gene variant | G/A;T | snv | 9 |