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 | 1.000 | 0.120 | 14 | 64352051 | non coding transcript exon variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.120 | 4 | 88132618 | missense variant | C/T | snv | 6.4E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
10 | 0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
12 | 0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 5 | 179705693 | missense variant | G/C | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1 | 19 | 46412799 | missense variant | G/C | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
36 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
11 | 0.807 | 0.120 | 15 | 78617197 | intron variant | G/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.200 | 15 | 78573083 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.882 | 0.080 | 6 | 53041202 | missense variant | T/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 17 | 1456106 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.060 | 1.000 | 6 | 2012 | 2019 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.060 | 1.000 | 6 | 2012 | 2019 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.060 | 1.000 | 6 | 2012 | 2019 | |||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.060 | 0.833 | 6 | 2007 | 2019 | |||
|
4 | 1 | 22907986 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 1 | 22910452 | missense variant | T/A;G | snv | 2.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 1.000 | 0.040 | 19 | 45351661 | stop gained | T/A;G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 14 | 64236875 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 14 | 64212580 | intron variant | T/G | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 |