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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.280 | 1 | 67287825 | intergenic variant | C/T | snv | 0.55 | 0.020 | < 0.001 | 2 | 2015 | 2017 | ||||
|
4 | 1.000 | 0.040 | 7 | 1541881 | 3 prime UTR variant | T/C | snv | 0.69 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.120 | 16 | 50716899 | missense variant | A/G | snv | 1.2E-03 | 7.5E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
7 | 0.790 | 0.240 | 5 | 150879305 | intron variant | A/G | snv | 0.21 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 1 | 150512511 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||
|
2 | 0.925 | 0.040 | 5 | 150848174 | missense variant | G/A;C;T | snv | 4.6E-05; 7.2E-03; 6.5E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
6 | 0.851 | 0.160 | 12 | 57472038 | missense variant | G/C | snv | 0.60 | 0.68 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
4 | 0.882 | 0.040 | 5 | 132334853 | synonymous variant | C/A;G;T | snv | 4.0E-06; 0.57 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | 1 | 67182950 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
16 | 0.716 | 0.320 | 17 | 42390192 | upstream gene variant | G/C | snv | 0.67 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
21 | 0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
14 | 0.752 | 0.360 | 10 | 79946568 | missense variant | A/G | snv | 0.47 | 0.42 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
5 | 0.882 | 0.080 | 16 | 50712383 | 3 prime UTR variant | A/C | snv | 1.3E-02 | 1.4E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.040 | 10 | 77811115 | frameshift variant | G/-;GG | delins | 0.020 | 0.500 | 2 | 2007 | 2016 | |||||
|
13 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 0.020 | 0.500 | 2 | 2009 | 2013 | ||||
|
10 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 0.500 | 2 | 2010 | 2012 | |||||
|
18 | 0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 | 0.020 | 0.500 | 2 | 2010 | 2015 | ||||
|
4 | 0.882 | 0.080 | 10 | 79941966 | missense variant | T/C;G | snv | 0.66 | 0.020 | 0.500 | 2 | 2009 | 2011 | ||||
|
3 | 0.925 | 0.040 | 10 | 77811115 | missense variant | G/A;C;T | snv | 4.0E-06; 8.0E-06; 5.7E-02 | 0.020 | 0.500 | 2 | 2007 | 2016 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 0.500 | 2 | 2001 | 2015 | |||
|
4 | 0.882 | 0.040 | 19 | 17191438 | intron variant | G/A | snv | 0.45 | 0.020 | 0.500 | 2 | 2014 | 2016 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.050 | 0.600 | 5 | 2009 | 2017 |