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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
3 | 0.882 | 0.120 | 11 | 2150371 | intron variant | T/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
4 | 0.882 | 0.120 | 18 | 676008 | intron variant | G/C | snv | 0.63 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
5 | 0.925 | 0.120 | 9 | 133279871 | upstream gene variant | T/C | snv | 0.49 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
2 | 0.925 | 0.120 | 4 | 69591303 | intron variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 10378834 | 3 prime UTR variant | G/A | snv | 0.33 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 8 | 128546982 | intron variant | C/T | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 7 | 35307237 | intergenic variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 7 | 11524758 | intron variant | C/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 3 | 128081228 | 3 prime UTR variant | A/G | snv | 0.22 | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 1 | 17590467 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.120 | 19 | 50850699 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 12 | 63871057 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 1 | 154583949 | 3 prime UTR variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 6 | 32518660 | missense variant | T/A;C | snv | 4.2E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 7 | 55020815 | intron variant | T/C | snv | 1.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 2 | 151286035 | intron variant | G/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 20 | 41161795 | intron variant | C/T | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 10 | 36880367 | regulatory region variant | G/T | snv | 0.90 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 3 | 128085887 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 9 | 98998959 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 5 | 168286995 | upstream gene variant | C/T | snv | 2.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.120 | 12 | 52235347 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |