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 | 0.120 | 1 | 32262639 | intron variant | C/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 1 | 167496884 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 9 | 129894985 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.240 | 10 | 18451155 | intron variant | T/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 12 | 9703362 | upstream gene variant | T/G | snv | 0.42 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 16 | 10874479 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.807 | 0.240 | 6 | 123540174 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 14 | 94869154 | regulatory region variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 12 | 53151908 | upstream gene variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 12 | 53192075 | 3 prime UTR variant | C/T | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.807 | 0.320 | 12 | 56076841 | 5 prime UTR variant | C/T | snv | 0.49 | 0.810 | 1.000 | 2 | 2007 | 2011 | ||||
|
7 | 0.807 | 0.360 | 12 | 56339747 | synonymous variant | G/A | snv | 4.9E-02 | 4.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 21 | 42405248 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.810 | 1.000 | 3 | 2009 | 2012 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.160 | 6 | 32812947 | 3 prime UTR variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 10 | 6430929 | missense variant | G/C;T | snv | 4.0E-06; 0.17 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.776 | 0.280 | 17 | 6999441 | missense variant | A/G | snv | 0.60 | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.160 | 3 | 46415921 | downstream gene variant | T/C | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.925 | 0.160 | 12 | 56042145 | 5 prime UTR variant | C/A;G;T | snv | 8.0E-06; 8.0E-06; 0.62; 1.1E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.120 | 3 | 172505900 | 3 prime UTR variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2018 | 2018 |