Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs5744168 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 18 | |
rs5744174 | 0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 | 13 | |
rs3024496 | 0.827 | 0.200 | 1 | 206768519 | 3 prime UTR variant | A/G | snv | 0.43 | 6 | ||
rs2072493 | 0.851 | 0.280 | 1 | 223111257 | missense variant | T/A;C | snv | 0.16 | 4 | ||
rs1640827 | 0.882 | 0.120 | 1 | 223138265 | intron variant | C/G;T | snv | 3 | |||
rs17163737 | 0.882 | 0.120 | 1 | 223129809 | intron variant | G/T | snv | 7.2E-02 | 3 | ||
rs1878672 | 0.882 | 0.080 | 1 | 206770368 | intron variant | G/A;C;T | snv | 3 | |||
rs3024491 | 0.925 | 0.040 | 1 | 206771701 | intron variant | C/A;T | snv | 2 | |||
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs1550117 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 11 | |||
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 | |||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs3804099 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 40 | |
rs3804100 | 0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 | 36 | |
rs121917864 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 31 | |
rs3805246 | 0.882 | 0.120 | 4 | 143382955 | intron variant | G/A | snv | 0.31 | 3 | ||
rs158572 | 0.851 | 0.120 | 5 | 60943616 | intron variant | G/A | snv | 0.63 | 4 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 | |
rs3748067 | 0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 21 | ||
rs6912200 | 0.925 | 0.080 | 6 | 41750170 | intron variant | C/T | snv | 0.54 | 3 |