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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 16 | 1792266 | frameshift variant | T/- | del | 7.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
18 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
6 | 0.827 | 0.080 | 17 | 44915083 | missense variant | G/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 1996 | 2005 | ||||
|
3 | 0.882 | 0.120 | 17 | 46014277 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
16 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 0.030 | 1.000 | 3 | 1996 | 2006 | |||
|
4 | 0.851 | 0.160 | 17 | 44351586 | missense variant | G/A;C | snv | 8.4E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.160 | 17 | 44350481 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
12 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 9 | 131197276 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.040 | 9 | 131128389 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.827 | 0.080 | 21 | 31667274 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.851 | 0.080 | 3 | 197960384 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
10 | 0.752 | 0.240 | 11 | 62702499 | missense variant | T/C | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
2 | 0.925 | 0.080 | 17 | 44915224 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 10 | 17229556 | missense variant | G/A;C | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 11 | 62705433 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
13 | 0.752 | 0.200 | 11 | 62702493 | missense variant | G/A;C | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
2 | 0.925 | 0.080 | 2 | 112835572 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.120 | 12 | 102475722 | synonymous variant | C/T | snv | 1.2E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.120 | 9 | 83707518 | missense variant | C/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 17 | 32208230 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.120 | 5 | 74718804 | missense variant | C/T | snv | 5.9E-04 | 4.5E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.776 | 0.240 | X | 78029314 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2014 | 2014 |