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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.040 | 6 | 30898095 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.030 | 1.000 | 3 | 2016 | 2017 | |||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.070 | 1.000 | 7 | 2011 | 2019 | ||||
|
7 | 0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
13 | 0.742 | 0.040 | 2 | 208248468 | synonymous variant | G/A | snv | 5.1E-02 | 6.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
42 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 0.050 | 0.800 | 5 | 2013 | 2017 | |||
|
10 | 0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
25 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
26 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.070 | 1.000 | 7 | 2011 | 2019 | |||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 18 | 2011 | 2019 | ||||
|
23 | 0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
19 | 0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 | 0.020 | 0.500 | 2 | 2007 | 2017 |