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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.080 | 0.750 | 8 | 2005 | 2014 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.080 | 0.750 | 8 | 2005 | 2014 | |||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.040 | 1.000 | 4 | 2014 | 2018 | ||||
|
14 | 0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
2 | 0.925 | 0.080 | 11 | 101034325 | 3 prime UTR variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2009 | 2013 | |||||
|
5 | 0.827 | 0.160 | 15 | 51344354 | intron variant | A/C | snv | 6.0E-02 | 0.020 | 1.000 | 2 | 2007 | 2007 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
10 | 0.790 | 0.240 | 15 | 51242350 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2016 | |||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
7 | 0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 5 | 119393632 | 3 prime UTR variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 18 | 676789 | intron variant | A/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.120 | 9 | 99123789 | intron variant | T/C | snv | 6.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
5 | 0.827 | 0.360 | 3 | 186857603 | 3 prime UTR variant | G/A;C | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 15 | 51212614 | intron variant | A/C;T | snv | 0.43 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 9 | 99145142 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.807 | 0.120 | 5 | 119393693 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 10 | 113678707 | upstream gene variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 10 | 113710131 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.120 | 3 | 133600730 | 3 prime UTR variant | G/- | del | 0.010 | 1.000 | 1 | 2014 | 2014 |