| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.846 | 0.143 | 20 | 23637790 | missense variant | C/G,T | snp | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
47 | 0.630 | 0.464 | 21 | 31667299 | missense variant | G/A,C | snp | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.036 | 5 | 80633904 | missense variant | T/A | snp | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.878 | 0.071 | 11 | 320772 | splice region variant | A/G | snp | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
21 | 0.715 | 0.250 | X | 154031409 | missense variant | G/A,T | snp | 5.5E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
10 | 0.756 | 0.107 | 10 | 99724057 | stop gained | G/A | snp | 3.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.769 | 0.107 | 10 | 99716419 | stop lost | A/C,G | snp | 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.821 | 0.143 | 20 | 4699851 | missense variant | G/C | snp | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 1.000 | 20 | 63495972 | missense variant | C/T | snp | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.036 | 1 | 154275165 | stop gained | C/T | snp | 3.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.071 | 20 | 18497075 | synonymous variant | C/T | snp | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.071 | 20 | 45253726 | synonymous variant | T/C | snp | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.143 | 14 | 74486404 | missense variant | C/T | snp | 1.7E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 |