Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 7 | 100175622 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 100612442 | missense variant | T/C | snv | 1.4E-04; 8.1E-06 | 4.1E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 10 | 101003969 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 101308570 | stop gained | C/A;T | snv | 6.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 12 | 101352104 | missense variant | A/T | snv | 3.4E-04 | 1.5E-03 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 102665242 | missense variant | C/G | snv | 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 102913687 | missense variant | G/T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.770 | 1.000 | 0 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 17 | 10496414 | missense variant | C/T | snv | 8.4E-05 | 2.9E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 10497766 | missense variant | C/T | snv | 5.6E-05 | 8.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 10499041 | missense variant | G/A | snv | 3.6E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 1 | 10506158 | intron variant | A/G | snv | 0.27 |
|
0.710 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.925 | 0.080 | 4 | 105163621 | intron variant | C/T | snv | 0.20 |
|
0.710 | 1.000 | 1 | 2013 | 2015 | ||||||||
|
1.000 | 0.080 | 9 | 105607844 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 105607846 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 21 | 10561176 | missense variant | G/A | snv | 5.6E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 9 | 107543834 | upstream gene variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2013 | 2016 | |||||||||
|
0.851 | 0.080 | 9 | 108126198 | regulatory region variant | G/A;T | snv |
|
0.740 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
0.925 | 0.120 | 11 | 108227594 | splice acceptor variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.280 | 11 | 108227806 | stop gained | C/A;T | snv | 7.2E-05; 2.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.280 | 11 | 108244867 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.280 | 11 | 108245027 | splice donor variant | G/A;C;T | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.280 | 11 | 108248987 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.280 | 11 | 108249082 | frameshift variant | T/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.280 | 11 | 108250834 | stop gained | C/A;G;T | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 0 |