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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.200 | 20 | 46011586 | missense variant | A/G | snv | 0.020 | 0.500 | 2 | 2006 | 2008 | |||||
|
15 | 0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
15 | 0.716 | 0.320 | 15 | 73927241 | missense variant | G/A;C;T | snv | 0.18; 4.5E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.050 | 0.800 | 5 | 2009 | 2020 | |||
|
24 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 0.020 | 1.000 | 2 | 2009 | 2020 | ||||
|
2 | 0.925 | 0.040 | 2 | 187394177 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.040 | 2 | 187373374 | intron variant | T/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 2 | 187365606 | intron variant | A/T | snv | 0.80 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.040 | 19 | 49060867 | non coding transcript exon variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 1 | 107874935 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 9 | 133855699 | intron variant | G/A | snv | 9.2E-02 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 1 | 107959790 | intron variant | C/A | snv | 0.62 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 1 | 107617607 | missense variant | A/C;G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.040 | 19 | 49061735 | missense variant | G/A | snv | 4.5E-03 | 2.3E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.807 | 0.200 | 20 | 46009497 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
7 | 0.851 | 0.040 | 11 | 16987058 | intron variant | T/C | snv | 0.20 | 0.790 | 0.900 | 10 | 2013 | 2019 | ||||
|
7 | 0.827 | 0.080 | 1 | 102914362 | missense variant | G/A | snv | 0.61 | 0.49 | 0.780 | 1.000 | 9 | 2013 | 2019 | |||
|
6 | 0.851 | 0.040 | 8 | 51974981 | intron variant | C/T | snv | 0.14 | 0.750 | 1.000 | 6 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.040 | 7 | 81735119 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.040 | 22 | 19902302 | intron variant | G/T | snv | 0.30 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.040 | 7 | 150998107 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 7 | 81718232 | intron variant | T/G | snv | 0.82 | 0.010 | 1.000 | 1 | 2013 | 2013 |