| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 0.040 | 1 | 94063263 | missense variant | G/A | snv | 2.4E-05 | 2.8E-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 | |||||
|
4 | 0.851 | 0.080 | 1 | 94060740 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 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 | |||||
|
1 | 1.000 | 1 | 94029527 | missense variant | G/A | snv | 1.2E-04 | 9.1E-05 | 0.800 | 1.000 | 21 | 1997 | 2017 | ||||
|
1 | 1.000 | 1 | 94005476 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.800 | 1.000 | 21 | 1997 | 2017 | ||||
|
2 | 1.000 | 1 | 94024994 | missense variant | C/T | snv | 1.1E-04 | 6.3E-05 | 0.800 | 1.000 | 21 | 1997 | 2017 | ||||
|
4 | 0.851 | 0.080 | 1 | 94111561 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.800 | 1.000 | 20 | 1997 | 2017 | |||
|
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 | 94056692 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 20 | 1997 | 2017 | |||||
|
1 | 1.000 | 1 | 94042766 | missense variant | C/A;T | snv | 1.6E-05 | 0.800 | 1.000 | 20 | 1997 | 2017 | |||||
|
7 | 0.807 | 0.080 | 1 | 94031110 | missense variant | G/A | snv | 2.4E-04 | 2.3E-04 | 0.800 | 1.000 | 20 | 1997 | 2019 | |||
|
1 | 1.000 | 1 | 94030452 | missense variant | C/T | snv | 2.0E-05 | 2.8E-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 | 94111526 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 0.800 | 1.000 | 20 | 1997 | 2019 | ||||
|
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 | ||||||
|
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 | 94024978 | missense variant | G/A | snv | 1.3E-04 | 5.6E-05 | 0.800 | 1.000 | 20 | 1997 | 2017 | ||||
|
1 | 1.000 | 1 | 94043470 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.800 | 1.000 | 19 | 1997 | 2014 |