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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.120 | 17 | 7673772 | missense variant | C/G;T | snv | 4.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 17 | 7673743 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 | |||||||||
|
22 | 0.689 | 0.480 | 17 | 7673778 | missense variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.040 | 12 | 48970460 | missense variant | T/C | snv | 4.1E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 10 | 113151107 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
3 | 0.925 | 0.040 | 18 | 55631366 | missense variant | G/A;C | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
3 | 0.925 | 0.040 | 18 | 55279598 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.020 | 0.500 | 2 | 2018 | 2019 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 21 | 2011 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 18 | 2011 | 2019 | |||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.790 | 1.000 | 11 | 2010 | 2018 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2014 | 2017 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
42 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 0.020 | 1.000 | 2 | 2011 | 2017 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2013 | |||
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 2001 | 2014 | ||||
|
14 | 0.776 | 0.280 | 10 | 87952143 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.710 | 1.000 | 2 | 2014 | 2016 | ||||
|
3 | 0.925 | 0.080 | 7 | 55165350 | missense variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2006 | 2016 |