| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.060 | 1.000 | 6 | 2012 | 2019 | |||
|
33 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.050 | 0.800 | 5 | 2003 | 2013 | |||||
|
16 | 0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 | 0.030 | 1.000 | 3 | 2003 | 2010 | ||||
|
45 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 0.030 | 1.000 | 3 | 2001 | 2017 | |||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.030 | 0.667 | 3 | 2003 | 2018 | |||
|
9 | 0.790 | 0.320 | 11 | 49206785 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2004 | 2010 | |||||
|
1 | 11 | 72196080 | missense variant | C/T | snv | 4.0E-05 | 5.6E-05 | 0.020 | 1.000 | 2 | 1999 | 2000 | |||||
|
1 | 6 | 151013801 | missense variant | A/G | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2009 | ||||||
|
40 | 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 | ||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 6 | 49444720 | missense variant | C/G;T | snv | 0.32 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 11 | 72221671 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||
|
1 | 10 | 133297981 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 1 | 115682372 | missense variant | G/A | snv | 2.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 4 | 109539620 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 160419339 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 6 | 150905744 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
1 | 19 | 34378944 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
17 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1 | 115691354 | missense variant | G/A;T | snv | 5.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
12 | 0.776 | 0.280 | 5 | 7878066 | missense variant | C/T | snv | 0.31 | 0.32 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
6 | 0.827 | 0.200 | 5 | 7885846 | missense variant | A/G | snv | 0.18 | 0.21 | 0.010 | 1.000 | 1 | 2005 | 2005 |