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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.320 | 6 | 32696681 | intergenic variant | T/C | snv | 0.64 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
2 | 1.000 | 0.120 | 4 | 38764099 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.120 | 1 | 55359252 | intron variant | C/T | snv | 7.7E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.200 | 6 | 31675622 | downstream gene variant | T/A;C | snv | 0.74 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 15 | 90822992 | regulatory region variant | G/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 10 | 89023563 | intergenic variant | C/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 18 | 54226736 | upstream gene variant | G/A | snv | 0.85 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.200 | 11 | 118873063 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.790 | 0.320 | 6 | 31106253 | downstream gene variant | A/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
28 | 0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 11 | 118873150 | intergenic variant | G/A | snv | 6.6E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 6 | 31617223 | upstream gene variant | T/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 1 | 45561805 | missense variant | C/G;T | snv | 4.0E-06; 4.3E-04 | 1.9E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.120 | 3 | 126154627 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.160 | 3 | 126107216 | missense variant | T/C | snv | 0.18 | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.160 | 11 | 108334154 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 19 | 48955724 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.763 | 0.480 | 18 | 63318540 | missense variant | C/T | snv | 1.8E-02 | 4.9E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 2 | 111151670 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
24 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
12 | 0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 |