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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.080 | 10 | 121520050 | missense variant | A/C;G | snv | 0.030 | 1.000 | 3 | 1995 | 2014 | |||||
|
25 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 1996 | 2006 | |||||
|
4 | 0.851 | 0.120 | 10 | 121517377 | missense variant | G/C | snv | 0.020 | 1.000 | 2 | 1995 | 2002 | |||||
|
13 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 1996 | 2019 | |||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.020 | 1.000 | 2 | 1997 | 2014 | ||||
|
3 | 0.882 | 0.120 | 10 | 121520076 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
4 | 0.851 | 0.120 | 10 | 121517391 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.200 | 8 | 38424690 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
5 | 0.827 | 0.280 | 8 | 38419696 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
9 | 0.790 | 0.200 | 10 | 121515260 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.790 | 0.120 | 10 | 121517379 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
3 | 0.882 | 0.080 | 10 | 121517372 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
8 | 0.776 | 0.160 | 10 | 121520052 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
9 | 0.790 | 0.160 | 10 | 121517351 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.280 | 10 | 121498591 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.080 | 10 | 121503857 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 20 | 38141329 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 0.925 | 0.080 | 10 | 121565633 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 10 | 121488065 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
13 | 0.742 | 0.160 | 10 | 121520010 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
5 | 0.827 | 0.280 | 8 | 38418270 | missense variant | T/C | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.080 | 10 | 121496555 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |