Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs61752717 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 72 | ||
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 43 | ||
rs1050450 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 43 | |
rs1800449 | 0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 | 33 | ||
rs1760944 | 0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv | 26 | |||
rs121908120 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 19 | |
rs28940580 | 0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 | 17 | ||
rs77542162 | 1.000 | 0.040 | 17 | 69085137 | missense variant | A/G | snv | 9.3E-03 | 1.0E-02 | 11 | |
rs1052536 | 0.776 | 0.200 | 17 | 35004556 | 3 prime UTR variant | C/T | snv | 0.42 | 0.36 | 10 | |
rs6795735 | 0.882 | 0.120 | 3 | 64719689 | intron variant | C/A;G;T | snv | 7 | |||
rs6609533 | 0.790 | 0.200 | X | 47585887 | 3 prime UTR variant | A/G;T | snv | 0.46 | 7 | ||
rs4954218 | 0.925 | 0.080 | 2 | 135045855 | intron variant | G/T | snv | 0.83 | 5 | ||
rs148957473 | 0.827 | 0.160 | 20 | 25077762 | missense variant | T/C;G | snv | 2.7E-03 | 5 | ||
rs9938149 | 0.925 | 0.160 | 16 | 88298034 | intron variant | C/A | snv | 0.66 | 4 | ||
rs3735520 | 0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv | 4 | |||
rs1536482 | 1.000 | 0.040 | 9 | 134548682 | upstream gene variant | G/A | snv | 0.36 | 3 | ||
rs2721051 | 1.000 | 0.040 | 13 | 40536747 | intron variant | C/T | snv | 8.6E-02 | 3 |