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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.200 | 13 | 108210436 | missense variant | C/A;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.882 | 0.040 | X | 119871933 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.851 | 0.120 | X | 119873312 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.160 | 16 | 1447498 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 16 | 78108446 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.851 | 0.120 | 11 | 34995002 | stop gained | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
22 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
12 | 0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.827 | 0.200 | X | 40075092 | missense variant | G/A;C | snv | 5.6E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.240 | 8 | 139618677 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
8 | 0.807 | 0.280 | 11 | 17475004 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 2 | 15467394 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.080 | 19 | 35302594 | missense variant | A/C | snv | 2.3E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.080 | 19 | 35299590 | missense variant | C/T | snv | 3.7E-03 | 3.9E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 5 | 160413521 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 3 | 193645736 | missense variant | T/C | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.120 | X | 154097661 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.827 | 0.160 | 11 | 17387937 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.120 | 11 | 17387206 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.851 | 0.240 | 11 | 17387091 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.040 | 7 | 102283048 | missense variant | C/G;T | snv | 6.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 22 | 39049549 | missense variant | G/A | snv | 0.52 | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 |