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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2000 | 2014 | ||||
|
1 | 1.000 | 0.120 | 3 | 38575345 | stop gained | C/A;T | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 3 | 38605953 | stop gained | C/A;T | snv | 6.3E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.120 | 3 | 38614031 | stop gained | G/A;T | snv | 8.3E-05; 8.8E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.763 | 0.120 | 3 | 38575385 | missense variant | C/T | snv | 5.4E-03 | 2.2E-03 | 0.050 | 1.000 | 5 | 2006 | 2019 | |||
|
6 | 0.807 | 0.120 | 3 | 38551504 | missense variant | C/A;T | snv | 0.040 | 1.000 | 4 | 1998 | 2004 | |||||
|
3 | 0.882 | 0.120 | 3 | 38551003 | missense variant | T/C | snv | 0.030 | 1.000 | 3 | 2000 | 2010 | |||||
|
3 | 0.882 | 0.120 | 3 | 38606751 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2007 | 2015 | |||||
|
3 | 0.882 | 0.120 | 3 | 38603887 | missense variant | G/A;C;T | snv | 2.1E-04; 4.9E-03 | 0.020 | 0.500 | 2 | 2008 | 2010 | ||||
|
2 | 0.925 | 0.120 | 3 | 38550356 | missense variant | G/C;T | snv | 1.1E-03 | 0.020 | 1.000 | 2 | 2007 | 2011 | ||||
|
5 | 0.882 | 0.120 | 3 | 38603758 | missense variant | C/T | snv | 2.9E-04 | 2.9E-04 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.120 | 3 | 38550988 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
4 | 0.851 | 0.120 | 3 | 38550989 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.120 | 3 | 38603747 | missense variant | G/A | snv | 3.1E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
5 | 0.827 | 0.120 | 3 | 38551513 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 3 | 38551070 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.120 | 3 | 38551015 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 3 | 38550856 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.120 | 3 | 38562467 | missense variant | G/A | snv | 1.8E-04 | 2.1E-04 | 0.710 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.882 | 0.120 | 3 | 38560394 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.120 | 3 | 38555742 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.120 | 3 | 38551441 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 3 | 38560418 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 3 | 38613799 | missense variant | G/A | snv | 6.8E-04 | 6.6E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.120 | 3 | 38550362 | missense variant | A/C;G;T | snv | 3.6E-05; 2.0E-03; 1.0E-05 | 0.010 | < 0.001 | 1 | 2008 | 2008 |