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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 5 | 158271107 | upstream gene variant | C/A | snv | 0.49 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 7 | 82151406 | intron variant | T/A | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
5 | 0.851 | 0.160 | 17 | 63497137 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.160 | 6 | 43770758 | missense variant | C/G;T | snv | 2.0E-05; 9.8E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 17 | 64370017 | missense variant | A/G | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
12 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
18 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
28 | 0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.160 | 6 | 43777546 | missense variant | C/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.240 | 6 | 154626274 | intergenic variant | A/G | snv | 0.13 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.060 | 0.500 | 6 | 2006 | 2018 | |||
|
1 | 1.000 | 0.120 | 17 | 1761175 | upstream gene variant | T/A;C | snv | 0.020 | 0.500 | 2 | 2007 | 2009 | |||||
|
1 | 1.000 | 0.120 | 17 | 1761607 | upstream gene variant | G/A | snv | 0.26 | 0.020 | 0.500 | 2 | 2007 | 2009 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.050 | 0.600 | 5 | 2005 | 2017 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.030 | 0.667 | 3 | 2006 | 2009 | |||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.040 | 0.750 | 4 | 2003 | 2013 | |||
|
15 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 0.040 | 0.750 | 4 | 2010 | 2017 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.040 | 0.750 | 4 | 2005 | 2017 | |||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.040 | 0.750 | 4 | 2013 | 2017 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.050 | 0.800 | 5 | 2006 | 2012 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.060 | 0.833 | 6 | 2010 | 2017 |