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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 1 | 207785101 | missense variant | C/T | snv | 1.5E-02 | 1.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
43 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.742 | 0.480 | 12 | 121184501 | missense variant | A/C;G | snv | 0.19; 4.0E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
11 | 0.742 | 0.480 | 10 | 67883584 | upstream gene variant | T/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.320 | 1 | 160837925 | intron variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.752 | 0.480 | 6 | 52186476 | intron variant | G/A | snv | 0.13 | 8.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.807 | 0.360 | 7 | 50266267 | upstream gene variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.280 | 5 | 151070675 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.851 | 0.280 | 11 | 128441164 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.827 | 0.200 | 1 | 196717788 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.320 | 1 | 160839213 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
13 | 0.732 | 0.400 | 5 | 151077924 | intron variant | G/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
33 | 0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 |