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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.280 | 4 | 101829765 | intron variant | T/C | snv | 0.25 | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||
|
13 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 0.020 | 1.000 | 2 | 2009 | 2010 | |||
|
2 | 0.925 | 0.080 | 2 | 102141867 | 5 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.120 | 4 | 102527884 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 102615256 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.280 | 4 | 102630446 | downstream gene variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
26 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.160 | 19 | 10351837 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.160 | 10 | 103913084 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 14 | 104924668 | upstream gene variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.160 | 6 | 106121395 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 106129493 | intron variant | A/G | snv | 0.70 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 6 | 106207742 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 6 | 106237320 | intron variant | G/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 106286165 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.160 | 13 | 108308037 | 3 prime UTR variant | T/A | snv | 2.0E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 1100037 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.827 | 0.200 | 12 | 112433568 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 2 | 11268891 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 1 | 112701565 | missense variant | C/T | snv | 4.2E-04 | 5.2E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 1 | 112708266 | intron variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 |