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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.716 | 0.280 | 19 | 50377484 | 5 prime UTR variant | T/C | snv | 0.70 | 0.020 | < 0.001 | 2 | 2013 | 2014 | ||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.080 | 7 | 151078923 | missense variant | C/T | snv | 4.6E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
31 | 0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
24 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
40 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
31 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
8 | 0.776 | 0.160 | 19 | 50374423 | intron variant | G/A | snv | 0.29 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
18 | 0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
7 | 0.790 | 0.080 | 17 | 78855710 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.080 | 2 | 169637315 | missense variant | A/G | snv | 4.1E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
14 | 0.752 | 0.080 | 10 | 94051682 | intron variant | C/T | snv | 0.39 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.080 | 10 | 94132433 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.040 | 0.500 | 4 | 2007 | 2014 | |||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.720 | 1.000 | 3 | 2016 | 2016 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.030 | 1.000 | 3 | 2010 | 2011 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2007 | 2009 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 1.000 | 2 | 2007 | 2009 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
29 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
|
36 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 |