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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.020 | 0.500 | 2 | 2015 | 2018 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.020 | 0.500 | 2 | 2015 | 2018 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.020 | 0.500 | 2 | 2015 | 2018 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2010 | 2016 | |||||
|
5 | 0.851 | 0.200 | 12 | 25227346 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.851 | 0.120 | 14 | 81143416 | missense variant | T/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
12 | 0.776 | 0.280 | 2 | 48688065 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | X | 67546155 | missense variant | G/A | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||
|
4 | 0.925 | 0.080 | 7 | 22732641 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.080 | 14 | 81143955 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
18 | 0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 11 | 532741 | synonymous variant | G/A;C | snv | 8.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.827 | 0.080 | 11 | 128911724 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 14 | 81143650 | missense variant | G/A | snv | 3.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 14 | 81143730 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1 | 4 | 154569614 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |