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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 4 | 47580370 | intron variant | A/C;T | snv | 0.76 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.925 | 0.080 | 15 | 90894158 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.080 | 16 | 67942417 | missense variant | A/C;T | snv | 4.0E-06; 1.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 4 | 118789266 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.160 | 13 | 30758410 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.870 | 23 | 1996 | 2019 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 0.850 | 20 | 1995 | 2016 | |||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.900 | 0.923 | 13 | 2007 | 2019 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.090 | 1.000 | 9 | 2008 | 2018 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.770 | 1.000 | 8 | 2007 | 2013 | ||||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.060 | 1.000 | 6 | 2005 | 2019 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.050 | 0.800 | 5 | 2001 | 2012 | |||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.040 | 1.000 | 4 | 2003 | 2011 | |||
|
12 | 0.763 | 0.160 | 6 | 39357302 | missense variant | A/G | snv | 0.41 | 0.49 | 0.040 | 0.750 | 4 | 2008 | 2015 | |||
|
10 | 0.763 | 0.200 | 15 | 39589977 | missense variant | A/G | snv | 7.9E-02 | 8.0E-02 | 0.040 | 0.750 | 4 | 2002 | 2011 | |||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.040 | 1.000 | 4 | 2008 | 2012 | ||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.040 | 0.750 | 4 | 1995 | 2004 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.040 | 0.750 | 4 | 2006 | 2018 | |||
|
4 | 0.925 | 0.080 | 9 | 22088095 | intron variant | A/G | snv | 0.42 | 0.810 | 1.000 | 3 | 2007 | 2018 | ||||
|
3 | 1.000 | 0.080 | 3 | 50186792 | intron variant | A/G | snv | 0.63 | 0.62 | 0.030 | 1.000 | 3 | 2009 | 2010 | |||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
15 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
10 | 0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2003 | 2005 |