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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 11 | 100708153 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 100711497 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
10 | 0.925 | 0.080 | 11 | 100722807 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2018 | |||||
|
4 | 11 | 100730902 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
9 | 1.000 | 0.040 | 11 | 100739815 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 7 | 100860471 | non coding transcript exon variant | C/G | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2014 | 2018 | ||||
|
4 | 0.925 | 0.040 | 3 | 10146549 | missense variant | G/A;C;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
19 | 0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 12 | 101894592 | intron variant | G/A | snv | 0.59 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 12 | 102396414 | 3 prime UTR variant | C/T | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.882 | 0.160 | 12 | 102444737 | intron variant | C/T | snv | 0.66 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
15 | 0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 10 | 102796297 | intron variant | G/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
12 | 0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.240 | 10 | 102830946 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
13 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.760 | 0.857 | 7 | 2011 | 2018 | |||
|
14 | 0.742 | 0.160 | 10 | 102835491 | non coding transcript exon variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 10 | 102839238 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 5 | 102840757 | intron variant | A/G | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
17 | 0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 | 0.020 | 1.000 | 2 | 2008 | 2014 |