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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 3 | 129529062 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
4 | 0.851 | 0.080 | 3 | 129529002 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.080 | 3 | 129530962 | missense variant | G/A;C | snv | 4.8E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 129532273 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 3 | 129532366 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 129528885 | missense variant | G/C | snv | 8.0E-04 | 2.9E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 3 | 129530922 | stop gained | C/A;T | snv | 6.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 3 | 129528906 | missense variant | C/G;T | snv | 9.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 129532345 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 3 | 129530879 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 0.925 | 0.080 | 3 | 129532379 | missense variant | T/G | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 3 | 129528864 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | |||
|
2 | 0.925 | 0.080 | 3 | 129532731 | missense variant | G/A;T | snv | 2.0E-05; 2.3E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 |