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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 1 | 154583949 | 3 prime UTR variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.050 | 1.000 | 5 | 2007 | 2015 | ||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.020 | 0.500 | 2 | 2016 | 2018 | ||||
|
3 | 0.882 | 0.120 | 6 | 32518660 | missense variant | T/A;C | snv | 4.2E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 7 | 55020815 | intron variant | T/C | snv | 1.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
27 | 0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.020 | 1.000 | 2 | 2016 | 2018 | |||
|
9 | 0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
8 | 0.776 | 0.160 | 17 | 43126360 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 2 | 151286035 | intron variant | G/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 20 | 41161795 | intron variant | C/T | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 10 | 36880367 | regulatory region variant | G/T | snv | 0.90 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.070 | 0.857 | 7 | 2010 | 2014 | |||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 19 | 1221320 | missense variant | C/A;G;T | snv | 2.9E-05; 1.2E-04 | 0.700 | 0 | |||||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.050 | 1.000 | 5 | 2007 | 2015 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |