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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 5 | 150733475 | start lost | T/C;G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.763 | 0.280 | 11 | 111908934 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 16 | 1791721 | missense variant | T/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 10 | 30313926 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.882 | 0.080 | 17 | 46024197 | 3 prime UTR variant | T/C | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.120 | 20 | 63930873 | missense variant | T/A;G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
3 | 0.925 | 0.120 | 12 | 51017570 | intron variant | G/T | snv | 0.74 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.120 | 17 | 45996657 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
6 | 0.827 | 0.120 | 14 | 73186920 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.030 | 0.667 | 3 | 2012 | 2019 | ||||
|
8 | 0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
7 | 0.851 | 0.040 | 17 | 50617560 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.050 | 1.000 | 5 | 2010 | 2016 | ||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.030 | 1.000 | 3 | 2006 | 2016 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2006 | 2011 | |||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
6 | 0.882 | 0.160 | 14 | 20472447 | missense variant | G/A | snv | 0.19 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.925 | 0.120 | 20 | 4699785 | missense variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 1 | 32014083 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.080 | 20 | 58444203 | missense variant | G/A | snv | 5.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.080 | 20 | 63962894 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.925 | 0.080 | 17 | 45994485 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.160 | 11 | 62691300 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |