| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 14 | 73171023 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 14 | 73192772 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 14 | 73198106 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
1.000 | 0.080 | 14 | 73173656 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.807 | 0.120 | 14 | 73192844 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 1998 | 2000 | |||||||||
|
1.000 | 0.080 | 14 | 73198010 | non coding transcript exon variant | T/C | snv | 3.5E-02 | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.160 | 14 | 73170963 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.120 | 14 | 73192793 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 14 | 73173685 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 14 | 73217219 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 14 | 73186869 | missense variant | T/A;C;G | snv |
|
0.040 | 1.000 | 4 | 2002 | 2016 | |||||||||
|
0.851 | 0.080 | 14 | 73173655 | missense variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 1999 | 2010 | |||||||||
|
0.827 | 0.080 | 14 | 73173643 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.790 | 0.120 | 14 | 73173646 | missense variant | T/A | snv | 8.0E-06 |
|
0.060 | 1.000 | 6 | 1997 | 2010 | ||||||||
|
0.882 | 0.080 | 14 | 73217177 | missense variant | G/T | snv |
|
0.020 | 0.500 | 2 | 2008 | 2020 | |||||||||
|
0.882 | 0.080 | 14 | 73170974 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
1.000 | 0.080 | 14 | 73217173 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.120 | 14 | 73192712 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.030 | 1.000 | 3 | 2001 | 2019 | ||||||||
|
0.807 | 0.120 | 14 | 73217147 | missense variant | G/C | snv |
|
0.020 | 1.000 | 2 | 1999 | 1999 | |||||||||
|
0.882 | 0.080 | 14 | 73170984 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.807 | 0.160 | 14 | 73219161 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.807 | 0.120 | 14 | 73217225 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2007 | ||||||||
|
0.925 | 0.080 | 14 | 73198145 | intron variant | G/A;T | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.790 | 0.120 | 14 | 73170998 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 14 | 73206385 | splice acceptor variant | G/A;T | snv |
|
0.700 | 0 |