| 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 | 0.040 | 5 | 132481024 | intron variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.040 | 2 | 200659013 | intron variant | A/G;T | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 5 | 112737780 | intron variant | T/C | snv | 5.4E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 112707537 | 5 prime UTR variant | C/T | snv | 4.8E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 22 | 39017772 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 14 | 24575388 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.040 | 5 | 112707566 | 5 prime UTR variant | C/T | snv | 7.2E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 15 | 74044940 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.040 | 19 | 43553481 | missense variant | C/T | snv | 6.4E-05 | 1.1E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 17 | 42300731 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 2 | 105363404 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.040 | 21 | 34887018 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 17 | 42344145 | intron variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 1 | 39659467 | missense variant | A/G | snv | 9.9E-05 | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.040 | 12 | 11869532 | missense variant | G/A;T | snv | 2.4E-05; 6.4E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.040 | 1 | 15507011 | missense variant | C/G;T | snv | 4.0E-06; 1.1E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.040 | 13 | 28049450 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.040 | 17 | 7673761 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 7 | 50392398 | intron variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 21 | 34834544 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 5 | 112737543 | intron variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 8 | 85465317 | missense variant | G/A;T | snv | 2.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.040 | 16 | 2713697 | missense variant | G/T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 50400428 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 |