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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2012 | |||
|
2 | 0.925 | 0.120 | 2 | 169237232 | missense variant | C/T | snv | 4.0E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.925 | 0.080 | 2 | 169348336 | intron variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.080 | 3 | 12408464 | intron variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.120 | 3 | 52907083 | missense variant | G/A;T | snv | 1.1E-04; 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 3 | 186065822 | missense variant | C/A;T | snv | 4.0E-06; 7.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 3 | 66383098 | missense variant | G/A;C | snv | 1.4E-04; 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 3 | 12297350 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.800 | 1.000 | 10 | 2010 | 2019 | ||||
|
5 | 0.925 | 0.120 | 4 | 9942000 | missense variant | C/G;T | snv | 4.0E-05; 3.2E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.827 | 0.200 | 4 | 9920543 | missense variant | C/T | snv | 0.24 | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.040 | 4 | 88094576 | splice donor variant | C/A;T | snv | 5.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 4 | 88107623 | intron variant | A/G | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 4 | 81141777 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 0.851 | 0.200 | 4 | 9934286 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 4 | 88131805 | stop gained | G/A | snv | 4.0E-04 | 1.2E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.160 | 4 | 81148295 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 5 | 73123606 | missense variant | G/A | snv | 6.8E-05; 8.0E-06 | 9.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.790 | 0.160 | 5 | 139379813 | missense variant | C/A;G;T | snv | 4.0E-06; 2.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 6 | 43780749 | missense variant | A/G | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 1.000 | 0.040 | 6 | 7226577 | missense variant | A/G | snv | 1.8E-04 | 2.1E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
10 | 0.763 | 0.160 | 6 | 11774350 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 |