Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.240 | 9 | 96240777 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
X | 53432110 | missense variant | G/C | snv | 5.5E-06 | 9.5E-06 |
|
0.810 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.320 | 6 | 32039426 | missense variant | T/A | snv | 4.8E-04 | 1.2E-03 |
|
0.050 | 1.000 | 5 | 2005 | 2019 | |||||||
|
0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 |
|
0.040 | 0.750 | 4 | 2007 | 2019 | ||||||||
|
0.827 | 0.240 | 6 | 32040421 | stop gained | C/T | snv | 3.6E-03 |
|
0.040 | 1.000 | 4 | 2004 | 2019 | ||||||||
|
0.776 | 0.320 | 6 | 32038514 | missense variant | C/T | snv | 9.2E-05 | 5.4E-04 |
|
0.040 | 1.000 | 4 | 2005 | 2019 | |||||||
|
0.882 | 0.200 | 6 | 32040535 | missense variant | C/T | snv | 7.0E-05 |
|
0.030 | 1.000 | 3 | 2005 | 2019 | ||||||||
|
0.807 | 0.280 | 6 | 32041093 | missense variant | C/G;T | snv | 5.5E-04 |
|
0.020 | 1.000 | 2 | 1997 | 2015 | ||||||||
|
0.882 | 0.200 | 6 | 32038538 | missense variant | A/C;T | snv | 8.6E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.320 | 7 | 75985688 | missense variant | C/T | snv | 0.31 | 0.27 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.200 | 12 | 104315829 | frameshift variant | T/- | del | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 6 | 32039810 | missense variant | T/A | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.240 | 6 | 32040179 | missense variant | G/A | snv | 1.1E-04 | 9.8E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.200 | 6 | 32041097 | missense variant | G/A;C | snv | 8.8E-06; 3.3E-04 |
|
0.010 | 1.000 | 1 | 1993 | 1993 | ||||||||
|
0.882 | 0.200 | 6 | 32039162 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.200 | 6 | 32041097 | frameshift variant | GG/C | delins |
|
0.010 | 1.000 | 1 | 1993 | 1993 | |||||||||
|
0.882 | 0.200 | 6 | 32039165 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.200 | 6 | 32039118 | missense variant | C/A;T | snv | 7.0E-05 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.827 | 0.240 | 6 | 32041006 | missense variant | C/T | snv | 4.6E-03 | 5.2E-03 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
1.000 | 6 | 32039816 | missense variant | T/A;C | snv | 1.0E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.200 | 6 | 32040919 | missense variant | G/A | snv | 1.5E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
1.000 | 6 | 32038498 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 |