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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 9 | 88989548 | upstream gene variant | T/G | snv | 0.38 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
10 | 0.763 | 0.240 | 15 | 58749813 | upstream gene variant | T/C;G | snv | 0.45 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
3 | 0.882 | 0.120 | 20 | 38373994 | missense variant | T/C;G | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
2 | 0.925 | 0.080 | 3 | 122119944 | 3 prime UTR variant | T/C | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
5 | 0.851 | 0.160 | 20 | 38373117 | missense variant | T/C | snv | 9.2E-02 | 0.12 | 0.020 | 1.000 | 2 | 2012 | 2018 | |||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.020 | 1.000 | 2 | 2010 | 2011 | |||
|
3 | 0.882 | 0.080 | 12 | 66250331 | 3 prime UTR variant | T/C | snv | 9.0E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
8 | 0.827 | 0.280 | 18 | 31592921 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.120 | 3 | 12299426 | intron variant | T/C | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.160 | 13 | 40565575 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 3 | 12292917 | intron variant | T/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 3 | 52218953 | non coding transcript exon variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.807 | 0.200 | 5 | 149431183 | non coding transcript exon variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.120 | 5 | 109066439 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.752 | 0.280 | 6 | 106326155 | upstream gene variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.160 | 6 | 79925034 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.030 | 0.667 | 3 | 2009 | 2014 | ||||
|
2 | 0.925 | 0.080 | 3 | 122102296 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.742 | 0.240 | 4 | 38806033 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
3 | 0.882 | 0.120 | 10 | 44379119 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.763 | 0.280 | 6 | 41282728 | missense variant | T/A | snv | 0.13 | 0.12 | 0.020 | 0.500 | 2 | 2012 | 2019 | |||
|
19 | 0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 | 0.010 | 1.000 | 1 | 2020 | 2020 |