Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs505922 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 34 | |||
rs2066842 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 15 | ||
rs1550117 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 11 | |||
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 | |||
rs1878672 | 0.882 | 0.080 | 1 | 206770368 | intron variant | G/A;C;T | snv | 3 | |||
rs2015620 | 0.882 | 0.120 | 16 | 3073560 | intron variant | A/G;T | snv | 3 | |||
rs3024491 | 0.925 | 0.040 | 1 | 206771701 | intron variant | C/A;T | snv | 2 | |||
rs7205423 | 1.000 | 0.040 | 16 | 50735351 | intron variant | C/G;T | snv | 1 | |||
rs8111085 | 1.000 | 0.040 | 19 | 10162696 | missense variant | T/A;C;G | snv | 1 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1402686368 | 1.000 | 0.040 | 7 | 101133793 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs121917864 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 31 | |
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs12229892 | 0.807 | 0.240 | 12 | 112485589 | intron variant | G/A | snv | 1.4E-02 | 6 | ||
rs10983755 | 0.790 | 0.320 | 9 | 117702392 | upstream gene variant | G/A | snv | 3.2E-02 | 7 | ||
rs5744168 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 18 | |
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs3748067 | 0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 21 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 |