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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.776 | 0.200 | 10 | 87957852 | splice acceptor variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 18 | 662103 | intron variant | G/A | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 19 | 55000864 | missense variant | C/A | snv | 0.37 | 0.39 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.851 | 0.120 | 10 | 102878966 | missense variant | T/A;C | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 10 | 104265109 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
4 | 1.000 | 0.080 | 10 | 132645884 | missense variant | A/G | snv | 0.22 | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 17 | 50353660 | missense variant | G/A | snv | 9.3E-03 | 1.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
12 | 0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 16 | 68788438 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.080 | 11 | 72190447 | 5 prime UTR variant | G/A | snv | 3.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
25 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 10 | 104278136 | intron variant | T/C | snv | 0.45 | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.120 | 5 | 80654962 | missense variant | A/G;T | snv | 0.86 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2018 | 2018 |