Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs7975232 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 56 | |
rs1800587 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 43 | ||
rs20575 | 0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 | 29 | |
rs17561 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 23 | |
rs917997 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 20 | |||
rs143383 | 0.724 | 0.320 | 20 | 35438203 | 5 prime UTR variant | G/A | snv | 0.47 | 17 | ||
rs2856836 | 0.763 | 0.280 | 2 | 112774506 | 3 prime UTR variant | A/G | snv | 0.26 | 9 | ||
rs2073711 | 0.807 | 0.160 | 15 | 65201874 | missense variant | A/G | snv | 0.56 | 0.61 | 7 | |
rs61734651 | 0.882 | 0.280 | 20 | 62819980 | missense variant | C/T | snv | 4.7E-02 | 4.5E-02 | 6 | |
rs1337185 | 0.851 | 0.160 | 1 | 103079209 | intron variant | C/G;T | snv | 0.15 | 5 | ||
rs1420106 | 0.851 | 0.200 | 2 | 102418584 | upstream gene variant | A/G | snv | 0.78 | 5 | ||
rs1254394380 | 0.882 | 0.160 | 1 | 102888618 | stop gained | G/A | snv | 4 | |||
rs4871857 | 0.851 | 0.200 | 8 | 23201811 | missense variant | C/G | snv | 4 | |||
rs1304037 | 0.882 | 0.200 | 2 | 112774659 | 3 prime UTR variant | T/C | snv | 0.32 | 3 | ||
rs162509 | 0.925 | 0.160 | 21 | 26953456 | intron variant | C/A;G | snv | 3 | |||
rs226794 | 0.882 | 0.160 | 21 | 26930036 | missense variant | A/G | snv | 0.83 | 0.89 | 3 | |
rs591058 | 0.882 | 0.160 | 11 | 102840607 | intron variant | T/C | snv | 0.58 | 0.57 | 3 | |
rs7533552 | 0.882 | 0.160 | 1 | 40307477 | missense variant | T/A;C;G | snv | 3 | |||
rs12077871 | 0.925 | 0.160 | 1 | 40307478 | stop gained | G/A;T | snv | 3.1E-02; 4.0E-06 | 2 | ||
rs12722877 | 0.925 | 0.160 | 1 | 40307451 | missense variant | G/A;C | snv | 2 | |||
rs34884997 | 0.925 | 0.160 | 1 | 161191082 | 3 prime UTR variant | T/C | snv | 0.12 | 2 | ||
rs41270041 | 0.925 | 0.160 | 1 | 161191494 | missense variant | G/C | snv | 9.1E-02 | 9.0E-02 | 2 |