Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs243865 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 48 | ||
rs121908120 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 19 | |
rs2240308 | 0.701 | 0.360 | 17 | 65558473 | missense variant | G/A | snv | 0.47 | 0.39 | 18 | |
rs1219648 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 17 | |||
rs2252070 | 0.752 | 0.320 | 11 | 102955810 | upstream gene variant | C/T | snv | 0.68 | 13 | ||
rs2235371 | 0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 | 11 | |
rs147680216 | 0.742 | 0.160 | 2 | 218890244 | missense variant | G/A | snv | 2.1E-03 | 6.9E-04 | 11 | |
rs12532 | 0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 | 10 | ||
rs121908119 | 0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 | 10 | |
rs121908568 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 9 | |||
rs17563 | 0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 | 8 | |
rs1800054 | 0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 | 7 | ||
rs987525 | 0.807 | 0.160 | 8 | 128933908 | intron variant | C/A | snv | 0.31 | 7 | ||
rs3178250 | 0.827 | 0.080 | 20 | 6779554 | 3 prime UTR variant | T/C | snv | 0.21 | 5 | ||
rs4904210 | 0.851 | 0.080 | 14 | 36666548 | missense variant | G/C | snv | 0.36 | 0.33 | 5 | |
rs8049367 | 0.851 | 0.240 | 16 | 3930444 | downstream gene variant | T/C | snv | 0.37 | 4 | ||
rs929387 | 0.851 | 0.080 | 7 | 41966080 | missense variant | G/A;C | snv | 0.43; 5.7E-06 | 4 | ||
rs8670 | 0.925 | 0.080 | 4 | 4863149 | 3 prime UTR variant | C/T | snv | 0.22 | 0.23 | 4 | |
rs61735045 | 0.882 | 0.160 | 9 | 134750808 | missense variant | G/A | snv | 3.5E-02 | 3.1E-02 | 3 | |
rs104894562 | 0.882 | 0.200 | 17 | 28529157 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs771803303 | 0.882 | 0.160 | 20 | 38148005 | missense variant | G/A;C;T | snv | 1.6E-05; 4.1E-06 | 3 | ||
rs116998555 | 0.882 | 0.080 | 2 | 218890118 | missense variant | C/A;T | snv | 4.0E-06; 1.9E-03 | 3 | ||
rs140920120 | 0.925 | 0.080 | 14 | 53952099 | missense variant | C/A;G | snv | 2.8E-04 | 2 | ||
rs483352804 | 0.925 | 0.080 | X | 70035389 | missense variant | G/A;T | snv | 2 |