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 | 0.080 | 1.000 | 8 | 1996 | 2019 | |||||
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 1997 | 2010 | |||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.050 | 1.000 | 5 | 1997 | 2016 | |||||
|
4 | 0.882 | 0.080 | 14 | 73217177 | missense variant | G/T | snv | 0.030 | 1.000 | 3 | 2008 | 2020 | |||||
|
5 | 0.851 | 0.080 | 14 | 73192799 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2003 | 2017 | |||||
|
8 | 0.827 | 0.120 | 14 | 73173644 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2010 | 2018 | |||||
|
8 | 0.827 | 0.120 | 14 | 73186881 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2007 | 2013 | |||||
|
6 | 0.827 | 0.120 | 14 | 73173574 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2004 | 2015 | |||||
|
3 | 0.925 | 0.080 | 14 | 73198066 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 1996 | 2004 | |||||
|
7 | 0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 1998 | 2003 | |||||
|
3 | 0.882 | 0.080 | 12 | 54182178 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.851 | 0.120 | 14 | 73171023 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 226885673 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 14 | 73219192 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.080 | 1 | 226894058 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 14 | 73171031 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 21 | 25891634 | intron variant | TACTTA/- | delins | 2.3E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.827 | 0.080 | 14 | 73186902 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.080 | 14 | 73198094 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
3 | 0.882 | 0.080 | 14 | 73219191 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.080 | 14 | 73198105 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
3 | 0.925 | 0.080 | 14 | 73192772 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.851 | 0.120 | 14 | 73192760 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |