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 | 0.827 | 0.200 | 17 | 41586462 | missense variant | G/A;C | snv | 0.770 | 1.000 | 7 | 2002 | 2018 | |||||
|
4 | 0.851 | 0.080 | 12 | 52516647 | stop gained | C/A;T | snv | 0.730 | 1.000 | 3 | 1997 | 2019 | |||||
|
6 | 0.807 | 0.160 | 12 | 52520223 | missense variant | G/A | snv | 0.720 | 1.000 | 2 | 2005 | 2010 | |||||
|
3 | 0.882 | 0.120 | 17 | 41586479 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 1998 | 1998 | |||||
|
4 | 0.851 | 0.120 | 17 | 41586461 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 12 | 52518117 | frameshift variant | C/- | del | 0.700 | 1.000 | 2 | 2006 | 2010 | |||||
|
2 | 0.925 | 0.080 | 17 | 41586467 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 52515066 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 12 | 52519789 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.030 | 1.000 | 3 | 2002 | 2017 | |||
|
6 | 0.827 | 0.120 | 12 | 52519884 | missense variant | C/T | snv | 5.7E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 17 | 41586428 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 17 | 41586453 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 17 | 41624185 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 12 | 52519123 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.080 | 12 | 52646783 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 0.925 | 0.080 | 17 | 41586404 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 1993 | 1993 | |||||
|
2 | 0.925 | 0.080 | 12 | 52517699 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.080 | 12 | 52516662 | stop gained | T/A;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.080 | 17 | 41583245 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.080 | 12 | 52519120 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.080 | 12 | 52679790 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 12 | 52517698 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
7 | 0.807 | 0.120 | 17 | 41571506 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||
|
2 | 0.925 | 0.080 | 17 | 41583272 | missense variant | C/G;T | snv | 2.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 12 | 52519869 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |