Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs929387 | 0.851 | 0.080 | 7 | 41966080 | missense variant | G/A;C | snv | 0.43; 5.7E-06 | 4 | ||
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs994158401 | 1.000 | 4 | 4860050 | missense variant | A/G | snv | 1.4E-03 | 1.7E-04 | 1 | ||
rs8670 | 0.925 | 0.080 | 4 | 4863149 | 3 prime UTR variant | C/T | snv | 0.22 | 0.23 | 4 | |
rs1095 | 0.925 | 0.080 | 4 | 4863211 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 2 | ||
rs12532 | 0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 | 10 | ||
rs11001553 | 0.925 | 0.080 | 10 | 52313141 | intron variant | C/T | snv | 0.12 | 2 | ||
rs17563 | 0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 | 8 | |
rs140920120 | 0.925 | 0.080 | 14 | 53952099 | missense variant | C/A;G | snv | 2.8E-04 | 2 | ||
rs243865 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 48 | ||
rs1444216093 | 1.000 | 4 | 5632031 | missense variant | G/A;C | snv | 1 | ||||
rs758420403 | 1.000 | 4 | 5689210 | missense variant | A/C | snv | 4.0E-06 | 1 | |||
rs121908568 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 9 | |||
rs2240308 | 0.701 | 0.360 | 17 | 65558473 | missense variant | G/A | snv | 0.47 | 0.39 | 18 | |
rs15705 | 1.000 | 20 | 6779333 | 3 prime UTR variant | A/C;T | snv | 1 | ||||
rs3178250 | 0.827 | 0.080 | 20 | 6779554 | 3 prime UTR variant | T/C | snv | 0.21 | 5 | ||
rs483352804 | 0.925 | 0.080 | X | 70035389 | missense variant | G/A;T | snv | 2 | |||
rs2268626 | 1.000 | 14 | 75978424 | intron variant | C/T | snv | 0.80 | 1 | |||
rs317250 | 1.000 | 2 | 76036546 | intron variant | C/T | snv | 0.96 | 1 |