| 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 | 0.080 | 14 | 73198010 | non coding transcript exon variant | T/C | snv | 3.5E-02 | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 14 | 73173634 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.790 | 0.120 | 14 | 73170998 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.790 | 0.120 | 14 | 73173646 | missense variant | T/A | snv | 8.0E-06 |
|
0.060 | 1.000 | 6 | 1997 | 2010 | ||||||||
|
0.851 | 0.080 | 14 | 73173655 | missense variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 1999 | 2010 | |||||||||
|
0.925 | 0.080 | 14 | 73171031 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 14 | 73192699 | missense variant | A/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.080 | 14 | 73173643 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv |
|
0.070 | 1.000 | 7 | 2000 | 2014 | |||||||||
|
0.827 | 0.120 | 14 | 73198052 | missense variant | C/T | snv | 4.0E-06 |
|
0.040 | 1.000 | 4 | 2002 | 2014 | ||||||||
|
0.851 | 0.120 | 14 | 73171023 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.120 | 14 | 73173574 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.120 | 14 | 73173667 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.120 | 14 | 73192793 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.080 | 14 | 73186869 | missense variant | T/A;C;G | snv |
|
0.040 | 1.000 | 4 | 2002 | 2016 | |||||||||
|
0.776 | 0.120 | 14 | 73170945 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 |
|
0.030 | 1.000 | 3 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 14 | 73173665 | missense variant | G/A;C;T | snv |
|
0.020 | 1.000 | 2 | 1996 | 2016 | |||||||||
|
1.000 | 0.080 | 14 | 73170846 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.080 | 14 | 73219188 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
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 | ||||||||
|
0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv |
|
0.100 | 1.000 | 10 | 2001 | 2017 | |||||||||
|
1.000 | 0.080 | 14 | 73136423 | 5 prime UTR variant | C/T | snv | 5.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.120 | 14 | 73192792 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.120 | 14 | 73173577 | missense variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 1998 | 2018 |