| Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 | 0.830 | 1.000 | 37 | 1997 | 2019 | ||||
|
2 | 1.000 | 1 | 94111579 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 0.800 | 1.000 | 23 | 1997 | 2017 | |||||
|
3 | 0.925 | 0.080 | 1 | 94001911 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 23 | 1997 | 2019 | ||||
|
4 | 0.882 | 0.080 | 1 | 94021340 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 0.800 | 1.000 | 23 | 1997 | 2019 | ||||
|
1 | 1.000 | 1 | 94062692 | missense variant | A/G;T | snv | 1.2E-05 | 0.800 | 1.000 | 22 | 1997 | 2017 | |||||
|
1 | 1.000 | 1 | 94042828 | missense variant | T/G | snv | 0.800 | 1.000 | 22 | 1997 | 2017 | ||||||
|
1 | 1.000 | 1 | 94031054 | stop gained | C/A;T | snv | 1.2E-05; 2.4E-05 | 0.800 | 1.000 | 22 | 1997 | 2017 | |||||
|
2 | 1.000 | 1 | 94120994 | missense variant | G/A;T | snv | 1.6E-05; 3.6E-05 | 0.800 | 1.000 | 21 | 1997 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 94062695 | missense variant | C/A;G;T | snv | 2.8E-05 | 0.800 | 1.000 | 21 | 1997 | 2019 | ||||
|
3 | 0.882 | 0.080 | 1 | 94062611 | stop gained | G/A;T | snv | 0.800 | 1.000 | 21 | 1997 | 2017 | |||||
|
1 | 1.000 | 1 | 94043462 | stop gained | C/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 21 | 1997 | 2017 | |||||
|
4 | 0.851 | 0.080 | 1 | 94014675 | missense variant | GG/CA | mnv | 0.710 | 1.000 | 20 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94063157 | missense variant | C/G;T | snv | 4.8E-05 | 0.800 | 1.000 | 20 | 1997 | 2017 | |||||
|
1 | 1.000 | 1 | 94047010 | missense variant | G/A;C | snv | 8.0E-05 | 0.700 | 1.000 | 20 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94042766 | missense variant | C/A;T | snv | 1.6E-05 | 0.800 | 1.000 | 20 | 1997 | 2017 | |||||
|
1 | 1.000 | 1 | 94029521 | missense variant | C/A;T | snv | 8.2E-06 | 0.800 | 1.000 | 20 | 1997 | 2017 | |||||
|
8 | 0.790 | 0.080 | 1 | 94098928 | missense variant | G/A;T | snv | 1.1E-04; 8.0E-06 | 0.800 | 1.000 | 20 | 1997 | 2019 | ||||
|
1 | 1.000 | 1 | 94019691 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-05 | 0.800 | 1.000 | 20 | 1997 | 2017 | |||||
|
1 | 1.000 | 1 | 94019713 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1997 | 2017 | |||||
|
1 | 1.000 | 1 | 94019664 | missense variant | C/A;T | snv | 8.0E-06; 1.1E-04 | 0.800 | 1.000 | 20 | 1997 | 2017 | |||||
|
1 | 1.000 | 1 | 94015763 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1997 | 2017 | ||||||
|
1 | 1.000 | 1 | 94014590 | missense variant | T/C | snv | 3.2E-05 | 0.710 | 1.000 | 20 | 1997 | 2014 | |||||
|
4 | 0.882 | 0.080 | 1 | 94008767 | missense variant | A/G | snv | 2.0E-05 | 0.800 | 1.000 | 20 | 1997 | 2014 | ||||
|
1 | 1.000 | 1 | 94014665 | missense variant | G/A;C | snv | 1.1E-04 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94103015 | missense variant | C/G | snv | 0.700 | 1.000 | 19 | 1997 | 2014 |