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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||
|
3 | 0.882 | 0.080 | 6 | 111390819 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.160 | 5 | 81970563 | upstream gene variant | A/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 5 | 83177826 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 5 | 35878038 | 3 prime UTR variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 5 | 1279849 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.120 | 5 | 150070569 | missense variant | T/C | snv | 9.9E-02 | 8.6E-02 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
3 | 0.882 | 0.080 | 19 | 3577038 | missense variant | G/A;C | snv | 6.8E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.080 | 2 | 50420809 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.882 | 0.080 | 17 | 7674225 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 1993 | 1993 | |||||
|
5 | 0.827 | 0.120 | 5 | 35857748 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 7 | 124827416 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.080 | 7 | 6005996 | missense variant | C/A;G;T | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 8 | 127014165 | intron variant | G/A;C | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.120 | 19 | 47680514 | missense variant | C/G;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 19 | 52209575 | intron variant | G/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.732 | 0.240 | 8 | 18400285 | synonymous variant | C/T | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.040 | 0.750 | 4 | 2004 | 2012 | |||
|
6 | 0.807 | 0.120 | 19 | 35281996 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.850 | 20 | 2000 | 2018 | ||||
|
5 | 0.827 | 0.120 | 5 | 148826785 | 5 prime UTR variant | C/A;G;T | snv | 4.2E-06; 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 2 | 112830483 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
7 | 0.827 | 0.120 | 19 | 15192033 | synonymous variant | T/A;C | snv | 4.0E-06; 0.85 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 |