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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 22 | 50626195 | missense variant | C/T | snv | 8.3E-06 | 0.800 | 1.000 | 5 | 1995 | 2017 | ||||
|
2 | 0.925 | 0.120 | 22 | 50626202 | missense variant | C/A;T | snv | 2.9E-05 | 0.800 | 1.000 | 5 | 1993 | 2016 | ||||
|
1 | 1.000 | 0.120 | 22 | 50625615 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.800 | 1.000 | 5 | 1995 | 2011 | ||||
|
1 | 1.000 | 0.120 | 22 | 50626154 | missense variant | C/T | snv | 1.3E-05 | 2.1E-05 | 0.800 | 1.000 | 4 | 2003 | 2017 | |||
|
1 | 1.000 | 0.120 | 22 | 50626708 | missense variant | C/T | snv | 1.2E-05 | 0.800 | 1.000 | 4 | 1997 | 2016 | ||||
|
2 | 0.925 | 0.120 | 22 | 50626706 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 4 | 1993 | 2017 | |||
|
2 | 0.925 | 0.120 | 22 | 50626682 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 3 | 2002 | 2008 | ||||
|
1 | 1.000 | 0.120 | 22 | 50626216 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 22 | 50625392 | missense variant | G/A | snv | 3.9E-04 | 3.6E-04 | 0.750 | 1.000 | 11 | 1991 | 2016 | |||
|
6 | 0.851 | 0.160 | 22 | 50626976 | missense variant | A/C | snv | 2.3E-04 | 2.8E-04 | 0.740 | 1.000 | 13 | 1991 | 2016 | |||
|
2 | 0.925 | 0.120 | 22 | 50627329 | missense variant | C/A;T | snv | 1.5E-05; 1.5E-05 | 0.720 | 0.909 | 11 | 1991 | 2018 | ||||
|
2 | 0.925 | 0.120 | 22 | 50626676 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 | 0.710 | 1.000 | 10 | 1992 | 2015 | ||||
|
2 | 0.925 | 0.120 | 22 | 50627374 | missense variant | C/A;T | snv | 7.1E-05 | 4.2E-05 | 0.710 | 1.000 | 7 | 1992 | 2016 | |||
|
1 | 1.000 | 0.120 | 22 | 50626699 | missense variant | A/G | snv | 1.2E-05 | 0.710 | 1.000 | 5 | 2003 | 2015 | ||||
|
1 | 1.000 | 0.120 | 22 | 50627619 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 22 | 50625453 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 22 | 50626941 | missense variant | G/T | snv | 8.0E-06 | 7.0E-06 | 0.710 | 1.000 | 1 | 1999 | 1999 | |||
|
1 | 1.000 | 0.120 | 22 | 50626857 | missense variant | A/C | snv | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 22 | 50625263 | missense variant | G/C | snv | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.120 | 22 | 50626191 | missense variant | C/A;T | snv | 2.1E-05; 4.1E-06 | 0.710 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.120 | 22 | 50625446 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 | 0.710 | 1.000 | 1 | 2001 | 2001 | |||
|
1 | 1.000 | 0.120 | 22 | 50627219 | missense variant | G/A;C;T | snv | 8.4E-06; 4.2E-06 | 0.710 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.160 | 22 | 50625640 | missense variant | G/A;C;T | snv | 3.4E-02 | 0.710 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.120 | 22 | 50627165 | splice donor variant | C/T | snv | 6.5E-04 | 4.5E-04 | 0.700 | 1.000 | 15 | 1991 | 2016 | |||
|
3 | 0.882 | 0.120 | 22 | 50626618 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 11 | 1990 | 2016 |