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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 | 0.040 | 0.750 | 4 | 1999 | 2013 | ||||
|
2 | 0.925 | 0.080 | 17 | 47748134 | downstream gene variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2014 | |||||
|
12 | 0.742 | 0.360 | 12 | 57108399 | intron variant | C/T | snv | 0.32 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
5 | 0.827 | 0.120 | 12 | 57096317 | 3 prime UTR variant | T/C | snv | 0.76 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2020 | ||||
|
4 | 0.851 | 0.080 | 1 | 111289601 | upstream gene variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.200 | 6 | 137219288 | missense variant | C/T | snv | 1.3E-03 | 4.1E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
1 | 1.000 | 0.080 | 17 | 47744726 | intron variant | C/A;T | snv | 0.16 | 0.15 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
12 | 0.742 | 0.440 | 2 | 203870794 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
7 | 0.807 | 0.200 | 17 | 39926554 | 5 prime UTR variant | T/C | snv | 0.49 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 16 | 27363681 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.080 | 9 | 21440691 | frameshift variant | C/- | delins | 4.2E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.080 | 9 | 108879545 | missense variant | G/A | snv | 0.19 | 0.22 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.925 | 0.080 | 2 | 102149405 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
31 | 0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.851 | 0.080 | 16 | 27363708 | missense variant | T/C | snv | 7.4E-03 | 1.4E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
15 | 0.716 | 0.400 | 12 | 68157629 | intron variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.080 | 14 | 22659998 | regulatory region variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 14 | 35405317 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 11 | 64197185 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 111320829 | intron variant | A/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 |