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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1 | 32014269 | missense variant | A/G | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 45035631 | missense variant | G/A | snv | 0.49 | 0.43 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
1 | 8 | 11850867 | stop gained | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 5 | 151851530 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
1 | 6 | 38737948 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 4 | 73406645 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 19 | 49909654 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 5 | 80633904 | missense variant | T/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 2 | 151839238 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
5 | 0.925 | 0.040 | 20 | 63495972 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 1.000 | 0.040 | 1 | 154275165 | stop gained | C/T | snv | 3.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.080 | 20 | 18497075 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 20 | 45253726 | synonymous variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.120 | 5 | 151851470 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
9 | 0.807 | 0.120 | 9 | 37783993 | missense variant | T/C;G | snv | 4.1E-04 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
5 | 0.851 | 0.120 | 1 | 11022196 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.851 | 0.120 | 10 | 99724057 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.120 | 10 | 99716419 | missense variant | A/C;G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.120 | 1 | 11018836 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.160 | 12 | 57569648 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.925 | 0.160 | 20 | 4699851 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
7 | 0.851 | 0.160 | 20 | 4699466 | synonymous variant | A/G;T | snv | 4.0E-06; 1.4E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 14 | 74486404 | missense variant | C/T | snv | 1.7E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
5 | 0.851 | 0.200 | 21 | 46602317 | synonymous variant | C/A;G;T | snv | 0.65 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.827 | 0.200 | 20 | 23637790 | missense variant | C/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 |