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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.708 | 0.360 | 13 | 30459095 | 3 prime UTR variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
15 | 0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 | 0.020 | 0.500 | 2 | 2018 | 2019 | |||
|
17 | 0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
17 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
13 | 0.732 | 0.360 | 8 | 6877909 | 5 prime UTR variant | C/T | snv | 0.36 | 0.41 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
13 | 0.732 | 0.320 | 7 | 106286419 | upstream gene variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
12 | 0.742 | 0.240 | 4 | 38806033 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
11 | 0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.742 | 0.320 | 13 | 30457747 | 3 prime UTR variant | C/T | snv | 0.58 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
13 | 0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
11 | 0.752 | 0.280 | 6 | 106326155 | upstream gene variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.763 | 0.280 | 6 | 41282728 | missense variant | T/A | snv | 0.13 | 0.12 | 0.020 | 0.500 | 2 | 2012 | 2019 | |||
|
10 | 0.763 | 0.240 | 15 | 58749813 | upstream gene variant | T/C;G | snv | 0.45 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.763 | 0.360 | 3 | 122120794 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
15 | 0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.240 | 8 | 73989727 | upstream gene variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.200 | 3 | 50612068 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.790 | 0.240 | 4 | 102597148 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.807 | 0.200 | 5 | 149431183 | non coding transcript exon variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 |