| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 94014665 | missense variant | G/A;C | snv | 1.1E-04 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94043470 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.800 | 1.000 | 19 | 1997 | 2014 | ||||
|
1 | 1.000 | 1 | 94103015 | missense variant | C/G | snv | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
1 | 1.000 | 1 | 94044743 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94029446 | missense variant | T/C | snv | 2.1E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94000836 | missense variant | T/C | snv | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
1 | 1.000 | 1 | 93996137 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94047046 | missense variant | C/A;T | snv | 3.9E-04 | 0.800 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 93997869 | missense variant | G/A;C | snv | 4.0E-06; 1.1E-04 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94111566 | missense variant | G/C | snv | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
1 | 1.000 | 1 | 94111517 | missense variant | A/C | snv | 1.4E-05 | 0.800 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94111510 | missense variant | A/G;T | snv | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
1 | 1.000 | 1 | 94111454 | missense variant | T/C;G | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94111442 | missense variant | A/G | snv | 1.4E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94098988 | missense variant | C/T | snv | 4.3E-04 | 1.5E-03 | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||
|
1 | 1.000 | 1 | 94098944 | missense variant | G/A;C | snv | 6.6E-04; 1.1E-03 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
2 | 1.000 | 1 | 94098904 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||
|
1 | 1.000 | 1 | 94080678 | missense variant | G/T | snv | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
1 | 1.000 | 1 | 94080580 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||
|
1 | 1.000 | 1 | 94080570 | missense variant | G/C | snv | 2.0E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94080559 | missense variant | A/C;G | snv | 0.800 | 1.000 | 19 | 1997 | 2014 | ||||||
|
1 | 1.000 | 1 | 94079421 | missense variant | A/T | snv | 5.5E-04 | 6.5E-04 | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||
|
2 | 1.000 | 1 | 94078611 | missense variant | G/C | snv | 8.0E-06 | 8.3E-06 | 0.800 | 1.000 | 19 | 1997 | 2014 | ||||
|
1 | 1.000 | 1 | 94063227 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 19 | 1997 | 2014 |