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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.900 | 1.000 | 58 | 1991 | 2019 | |||||
|
8 | 0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv | 0.790 | 1.000 | 9 | 2001 | 2019 | |||||
|
8 | 0.790 | 0.240 | 21 | 25891858 | missense variant | G/C | snv | 0.760 | 1.000 | 26 | 1991 | 2016 | |||||
|
6 | 0.827 | 0.080 | 21 | 25897619 | missense variant | G/A;C | snv | 0.740 | 1.000 | 4 | 2009 | 2017 | |||||
|
9 | 0.763 | 0.160 | 21 | 25891796 | missense variant | C/T | snv | 9.5E-05 | 6.3E-05 | 0.730 | 1.000 | 25 | 1991 | 2017 | |||
|
4 | 0.851 | 0.080 | 21 | 25891790 | missense variant | C/T | snv | 0.730 | 1.000 | 23 | 1991 | 2019 | |||||
|
2 | 0.925 | 0.080 | 21 | 25897605 | missense variant | C/G;T | snv | 0.720 | 1.000 | 21 | 1991 | 2019 | |||||
|
3 | 0.882 | 0.200 | 21 | 25891853 | missense variant | C/T | snv | 0.720 | 1.000 | 10 | 2001 | 2019 | |||||
|
3 | 0.882 | 0.120 | 21 | 25891792 | missense variant | G/A | snv | 0.720 | 1.000 | 2 | 2000 | 2008 | |||||
|
4 | 0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv | 0.710 | 1.000 | 21 | 1991 | 2005 | |||||
|
2 | 0.925 | 0.080 | 21 | 25891765 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 21 | 25891787 | missense variant | T/A;C | snv | 0.700 | 1.000 | 20 | 1991 | 2004 | |||||
|
3 | 0.882 | 0.080 | 21 | 25891793 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1991 | 2004 | |||||
|
2 | 0.925 | 0.080 | 21 | 25897626 | missense variant | TC/GA | mnv | 0.700 | 1.000 | 3 | 1996 | 2013 | |||||
|
9 | 0.790 | 0.160 | 21 | 26000095 | missense variant | G/A | snv | 0.100 | 1.000 | 12 | 2003 | 2020 | |||||
|
8 | 0.790 | 0.120 | 21 | 25897620 | missense variant | C/T | snv | 4.5E-04 | 3.0E-04 | 0.100 | 0.818 | 11 | 2012 | 2018 | |||
|
11 | 0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv | 0.100 | 1.000 | 10 | 1998 | 2018 | |||||
|
10 | 0.763 | 0.160 | 21 | 25897627 | missense variant | C/A;T | snv | 8.0E-06 | 0.080 | 1.000 | 8 | 1998 | 2018 | ||||
|
18 | 0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 | 0.080 | 1.000 | 8 | 2002 | 2014 | |||
|
8 | 0.790 | 0.120 | 21 | 25891772 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.060 | 1.000 | 6 | 1997 | 2014 | |||
|
3 | 0.882 | 0.160 | 21 | 25975185 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2018 | |||
|
1 | 1.000 | 0.080 | 21 | 26022019 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2004 | 2006 | ||||
|
1 | 1.000 | 0.080 | 21 | 26021924 | missense variant | G/A;T | snv | 4.1E-06 | 0.020 | 1.000 | 2 | 2003 | 2008 | ||||
|
3 | 0.882 | 0.080 | 21 | 25891761 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2006 | 2018 | |||||
|
13 | 0.742 | 0.280 | 21 | 25891856 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2000 | 2002 |