Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1426868527 | 1 | 20633841 | missense variant | G/A;T | snv | 3 | |||||
rs369634041 | 6 | 162262647 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-05 | 3 | ||||
rs1057518882 | MT | 14598 | missense variant | T/C | snv | 2 | |||||
rs757199733 | 2 | 178799505 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |||
rs1057519629 | 16 | 2498332 | missense variant | C/G;T | snv | 2.1E-05 | 1 | ||||
rs1417802320 | 1 | 7962861 | missense variant | A/T | snv | 4.0E-06 | 1 | ||||
rs41311141 | 22 | 32484019 | synonymous variant | A/G;T | snv | 3.4E-02 | 1 | ||||
rs45467995 | 1 | 20649062 | missense variant | G/A | snv | 1 | |||||
rs55739947 | 15 | 101010802 | missense variant | C/A | snv | 9.3E-03 | 8.4E-03 | 1 | |||
rs748705829 | 11 | 233109 | missense variant | T/C | snv | 8.0E-06 | 1 | ||||
rs752804472 | 20 | 31484309 | missense variant | G/A;T | snv | 5.7E-06; 5.7E-06 | 1 | ||||
rs756677845 | 1 | 20638074 | frameshift variant | G/- | del | 1 | |||||
rs758414077 | 19 | 48966681 | synonymous variant | G/A | snv | 8.0E-06 | 2.8E-05 | 1 | |||
rs781652026 | 10 | 100989789 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 78 | |
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs63751273 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 42 | |||
rs76763715 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 35 | ||
rs63750424 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 30 | ||
rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 30 | ||
rs33939927 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 24 | ||
rs63750756 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 23 | ||
rs1289324472 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 21 |