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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
79 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.870 | 0.875 | 7 | 2008 | 2018 | |||||
|
11 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.830 | 1.000 | 3 | 2010 | 2018 | ||||
|
27 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.830 | 1.000 | 3 | 2010 | 2018 | ||||
|
8 | 0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 | 0.820 | 1.000 | 2 | 2009 | 2017 | |||
|
14 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.810 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.720 | 1.000 | 2 | 2008 | 2019 | ||||
|
7 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.720 | 1.000 | 2 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 18 | 442441 | intron variant | C/T | snv | 0.16 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.882 | 0.080 | 11 | 116781707 | intron variant | G/A;C;T | snv | 0.710 | 1.000 | 1 | 2014 | 2018 | |||||
|
93 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.710 | 1.000 | 1 | 2017 | 2017 | |||
|
127 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.100 | 0.960 | 25 | 2001 | 2018 | |||
|
117 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.955 | 22 | 2001 | 2014 | |||||
|
80 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.100 | 0.944 | 18 | 2008 | 2018 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.100 | 1.000 | 16 | 1996 | 2019 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.917 | 12 | 2006 | 2018 | |||
|
80 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.100 | 1.000 | 11 | 2012 | 2019 | |||
|
26 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.100 | 0.900 | 10 | 2011 | 2017 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.080 | 0.875 | 8 | 2002 | 2015 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.080 | 0.875 | 8 | 2008 | 2018 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.080 | 0.875 | 8 | 2011 | 2019 | ||||
|
22 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.070 | 1.000 | 7 | 2007 | 2016 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.060 | 1.000 | 6 | 2009 | 2018 | |||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.060 | 1.000 | 6 | 2010 | 2017 | |||||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.060 | 1.000 | 6 | 2005 | 2015 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.060 | 1.000 | 6 | 2004 | 2011 |