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 | 0.120 | 17 | 80107837 | missense variant | T/C;G | snv | 0.800 | 1.000 | 21 | 1991 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 80107574 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 21 | 1991 | 2014 | ||||
|
1 | 1.000 | 0.120 | 17 | 80118752 | missense variant | G/T | snv | 0.700 | 1.000 | 21 | 1991 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 80108812 | missense variant | G/A | snv | 6.5E-05 | 2.2E-04 | 0.700 | 1.000 | 21 | 1991 | 2014 | |||
|
1 | 1.000 | 0.120 | 17 | 80112015 | missense variant | A/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 21 | 1991 | 2014 | ||||
|
1 | 1.000 | 0.120 | 17 | 80108305 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 0.800 | 1.000 | 21 | 1991 | 2010 | ||||
|
1 | 1.000 | 0.120 | 17 | 80108542 | missense variant | G/A;C;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 21 | 1991 | 2014 | ||||
|
1 | 1.000 | 0.120 | 17 | 80112619 | missense variant | C/A | snv | 1.2E-05 | 0.700 | 1.000 | 21 | 1991 | 2014 | ||||
|
3 | 0.925 | 0.120 | 17 | 80107718 | missense variant | C/G;T | snv | 5.1E-06; 5.1E-06 | 0.700 | 1.000 | 21 | 1991 | 2014 | ||||
|
1 | 1.000 | 0.120 | 17 | 80112056 | missense variant | C/G;T | snv | 3.6E-05 | 0.700 | 1.000 | 21 | 1991 | 2014 | ||||
|
1 | 1.000 | 0.120 | 17 | 80108603 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 21 | 1991 | 2014 | ||||
|
2 | 0.925 | 0.120 | 17 | 80110974 | missense variant | TC/GT | mnv | 0.700 | 1.000 | 20 | 1991 | 2010 | |||||
|
1 | 1.000 | 0.120 | 17 | 80119318 | missense variant | T/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1991 | 2010 | |||
|
1 | 1.000 | 0.120 | 17 | 80112643 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1991 | 2010 | ||||
|
1 | 1.000 | 0.120 | 17 | 80108712 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1991 | 2010 | |||
|
1 | 1.000 | 0.120 | 17 | 80117075 | missense variant | A/C;G | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 20 | 1991 | 2010 | ||||
|
1 | 1.000 | 0.120 | 17 | 80112930 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1991 | 2010 | |||
|
1 | 1.000 | 0.120 | 17 | 80108337 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1991 | 2010 | ||||
|
1 | 1.000 | 0.120 | 17 | 80112899 | missense variant | G/A;T | snv | 1.2E-05 | 0.700 | 1.000 | 20 | 1991 | 2010 | ||||
|
3 | 0.925 | 0.120 | 17 | 80112621 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 20 | 1991 | 2010 | |||
|
1 | 1.000 | 0.120 | 17 | 80112659 | missense variant | C/G;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 20 | 1991 | 2010 | ||||
|
1 | 1.000 | 0.120 | 17 | 80104722 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1991 | 2010 | |||||
|
1 | 1.000 | 0.120 | 17 | 80112627 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1991 | 2010 | ||||
|
6 | 0.882 | 0.120 | 17 | 80104542 | intron variant | T/G | snv | 3.4E-03 | 3.8E-03 | 0.700 | 1.000 | 17 | 1989 | 2017 | |||
|
1 | 1.000 | 0.120 | 17 | 80112001 | missense variant | T/C | snv | 3.2E-05 | 3.5E-05 | 0.800 | 1.000 | 16 | 2004 | 2015 |