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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.200 | 2 | 74378123 | missense variant | A/C | snv | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
5 | 0.851 | 0.080 | 4 | 89828156 | missense variant | A/C | snv | 8.0E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.851 | 0.120 | 17 | 46010373 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.730 | 1.000 | 3 | 2016 | 2018 | ||||
|
10 | 0.790 | 0.120 | 17 | 45971879 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 20633925 | missense variant | A/C;G | snv | 5.3E-06; 3.7E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 1 | 119140608 | missense variant | A/C;G;T | snv | 3.2E-03; 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
5 | 0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.030 | 1.000 | 3 | 1996 | 1999 | |||
|
6 | 0.827 | 0.080 | 3 | 132477995 | missense variant | A/G | snv | 4.2E-06 | 3.5E-05 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
7 | 0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.080 | 17 | 45983493 | missense variant | A/G | snv | 4.0E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
10 | 0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 0.500 | 2 | 2003 | 2010 | ||||
|
1 | 22 | 32484019 | synonymous variant | A/G;T | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 0.925 | 0.080 | X | 78117385 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1 | 7962861 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
3 | 1.000 | 0.080 | 20 | 3910806 | missense variant | A/T | snv | 6.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 15 | 101010802 | missense variant | C/A | snv | 9.3E-03 | 8.4E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.040 | 1 | 20638104 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.030 | 1.000 | 3 | 2008 | 2014 | ||||
|
3 | 0.925 | 0.160 | 17 | 45993953 | missense variant | C/A;G;T | snv | 6.3E-05; 2.5E-04; 5.3E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.040 | 6 | 162443356 | missense variant | C/A;G;T | snv | 3.2E-05; 2.6E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
4 | 0.925 | 0.080 | 22 | 32498453 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |