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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 4 | 3274764 | downstream gene variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 3289674 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 7 | 16455781 | regulatory region variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 4 | 3281695 | intergenic variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.742 | 0.440 | 10 | 67863299 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 17 | 37242036 | synonymous variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 4 | 2910336 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 146716848 | intron variant | C/A | snv | 1.7E-02 | 3.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.320 | 8 | 140551294 | intron variant | G/C;T | snv | 0.57; 4.9E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.763 | 0.400 | 3 | 186620593 | missense variant | G/A;C | snv | 0.67 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 3 | 11358545 | missense variant | T/C | snv | 3.2E-02 | 3.9E-02 | 0.020 | 1.000 | 2 | 2010 | 2013 | |||
|
3 | 0.882 | 0.160 | 12 | 6934305 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2006 | 2006 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.120 | 17 | 42818395 | missense variant | T/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 7 | 134933359 | missense variant | A/G;T | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
2 | 0.925 | 0.160 | 5 | 80654926 | missense variant | C/G;T | snv | 8.5E-06; 6.8E-05; 8.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.662 | 0.640 | 14 | 95087025 | 3 prime UTR variant | A/G | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 |