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 | 0.080 | 13 | 62947758 | intergenic variant | G/A | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.160 | 5 | 53051539 | synonymous variant | C/T | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
8 | 0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 17 | 82101611 | 3 prime UTR variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
16 | 0.724 | 0.440 | 15 | 81309441 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 1 | 236898549 | 3 prime UTR variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.925 | 0.080 | 7 | 133363002 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.240 | 9 | 117701869 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.851 | 0.120 | 9 | 117717059 | 3 prime UTR variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 9 | 117717732 | 3 prime UTR variant | G/A | snv | 5.1E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 17 | 12996646 | synonymous variant | T/A;C;G | snv | 2.4E-05; 0.27; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
27 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.200 | 12 | 47841134 | downstream gene variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.200 | 15 | 60774317 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 16 | 55499358 | intron variant | A/G | snv | 0.26 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 17 | 49321080 | intron variant | T/A | snv | 8.1E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 13 | 49630641 | missense variant | G/A;C;T | snv | 8.8E-05; 1.9E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 17 | 48743314 | intergenic variant | C/T | snv | 2.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 7 | 55056275 | intron variant | C/A;T | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 17 | 47391492 | stop gained | T/G | snv | 4.4E-02 | 4.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 3 | 50331675 | missense variant | T/G | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.925 | 0.080 | 2 | 186678500 | 3 prime UTR variant | G/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 22 | 19880016 | intron variant | C/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 19 | 50858075 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |