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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.857 | 14 | 2008 | 2018 | |||
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.100 | 0.818 | 11 | 2007 | 2018 | ||||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.860 | 0.900 | 10 | 2008 | 2015 | |||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.100 | 0.900 | 10 | 2007 | 2018 | ||||
|
5 | 0.827 | 0.240 | 6 | 137878280 | intron variant | G/T | snv | 0.58 | 0.860 | 1.000 | 10 | 2009 | 2015 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.080 | 0.875 | 8 | 2009 | 2018 | |||
|
4 | 0.851 | 0.160 | 5 | 151098757 | downstream gene variant | G/A | snv | 7.1E-02 | 0.820 | 1.000 | 7 | 2009 | 2015 | ||||
|
14 | 0.742 | 0.200 | 6 | 111592059 | missense variant | C/T | snv | 8.6E-02 | 9.7E-02 | 0.850 | 1.000 | 7 | 2010 | 2019 | |||
|
3 | 0.882 | 0.040 | 17 | 80205094 | missense variant | C/T | snv | 0.41 | 0.40 | 0.840 | 1.000 | 5 | 2012 | 2016 | |||
|
7 | 0.851 | 0.120 | 6 | 31285148 | intron variant | C/T | snv | 0.12 | 0.830 | 1.000 | 5 | 2009 | 2015 | ||||
|
8 | 0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 | 0.810 | 1.000 | 5 | 2009 | 2015 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.830 | 1.000 | 5 | 2009 | 2016 | |||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.740 | 0.800 | 5 | 2008 | 2016 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.050 | 1.000 | 5 | 2014 | 2019 | |||
|
3 | 0.882 | 0.280 | 17 | 27779649 | intron variant | A/G | snv | 0.31 | 0.820 | 1.000 | 5 | 2010 | 2015 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.050 | 1.000 | 5 | 2015 | 2019 | |||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.810 | 1.000 | 4 | 2008 | 2018 | ||||
|
12 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 0.810 | 1.000 | 4 | 2010 | 2018 | ||||
|
4 | 0.851 | 0.120 | 1 | 152578800 | downstream gene variant | A/G;T | snv | 0.820 | 1.000 | 4 | 2009 | 2011 | |||||
|
2 | 0.925 | 0.120 | 20 | 49905793 | synonymous variant | G/A | snv | 0.44 | 0.35 | 0.810 | 1.000 | 4 | 2008 | 2015 | |||
|
12 | 0.742 | 0.400 | 1 | 67219704 | missense variant | T/A;C | snv | 0.88 | 0.040 | 1.000 | 4 | 2008 | 2014 | ||||
|
2 | 0.925 | 0.080 | 14 | 35363460 | intron variant | T/G | snv | 0.60 | 0.810 | 1.000 | 4 | 2010 | 2015 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2014 | 2020 | |||||
|
1 | 1.000 | 0.040 | 9 | 32523739 | intron variant | T/C | snv | 0.41 | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 56045425 | upstream gene variant | A/G | snv | 0.14 | 0.800 | 1.000 | 3 | 2010 | 2015 |