| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.667 | 21 | 1999 | 2019 | |||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.060 | 0.833 | 6 | 2003 | 2018 | ||||||||
|
0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv |
|
0.050 | 0.800 | 5 | 2003 | 2013 | |||||||||
|
0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 |
|
0.030 | 1.000 | 3 | 2003 | 2010 | ||||||||
|
0.790 | 0.320 | 11 | 49206785 | missense variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2004 | 2010 | |||||||||
|
6 | 151013801 | missense variant | A/G | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2009 | ||||||||||
|
0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2001 | 2003 | ||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1 | 154157607 | 3 prime UTR variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.160 | 10 | 102604895 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
6 | 49444720 | missense variant | C/G;T | snv | 0.32 |
|
0.010 | < 0.001 | 1 | 2003 | 2003 | ||||||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
11 | 72221671 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||||
|
10 | 133297981 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
11 | 82838473 | synonymous variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1 | 115691354 | missense variant | G/A;T | snv | 5.2E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
8 | 72830736 | intron variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
14 | 64449470 | missense variant | C/G;T | snv | 4.0E-06; 7.6E-03 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
9 | 133694338 | missense variant | C/G;T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 9 | 133671511 | intron variant | G/A;C | snv | 0.53; 1.1E-04 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 169363371 | upstream gene variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 |