Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs2297235 | 0.752 | 0.320 | 10 | 104274733 | 5 prime UTR variant | A/G | snv | 0.22 | 11 | ||
rs360719 | 0.790 | 0.480 | 11 | 112165426 | non coding transcript exon variant | A/G | snv | 0.25 | 7 | ||
rs36117895 | 1.000 | 0.120 | 3 | 11358545 | missense variant | T/C | snv | 3.2E-02 | 3.9E-02 | 1 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs771845093 | 0.925 | 0.160 | 1 | 12005903 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 3 | |
rs7652589 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 13 | ||
rs1801725 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 39 | |
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs10934657 | 1.000 | 0.120 | 3 | 124093989 | intron variant | T/C | snv | 0.60 | 1 | ||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs10881578 | 0.925 | 0.240 | 9 | 134340689 | intron variant | A/G | snv | 0.32 | 2 | ||
rs756573441 | 1.000 | 0.120 | 7 | 134933359 | missense variant | A/G;T | snv | 4.2E-06 | 1 | ||
rs1806201 | 0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 | 8 | |
rs2292779 | 0.851 | 0.320 | 8 | 140551294 | intron variant | G/C;T | snv | 0.57; 4.9E-06 | 4 | ||
rs73786719 | 1.000 | 0.120 | 6 | 146716848 | intron variant | C/A | snv | 1.7E-02 | 3.3E-02 | 1 | |
rs2234759 | 1.000 | 0.120 | 4 | 155208405 | non coding transcript exon variant | A/C;G | snv | 1 | |||
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs568408 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 29 | ||
rs71358386 | 1.000 | 0.120 | 17 | 16047840 | intron variant | T/C | snv | 4.1E-02 | 1 | ||
rs12668183 | 1.000 | 0.120 | 7 | 16455781 | regulatory region variant | T/C | snv | 0.34 | 1 | ||
rs200161705 | 0.882 | 0.160 | 4 | 169585374 | missense variant | C/A;T | snv | 6.0E-05; 2.3E-03 | 5 | ||
rs4918 | 0.763 | 0.400 | 3 | 186620593 | missense variant | G/A;C | snv | 0.67 | 12 |