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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
3 | 0.882 | 0.120 | 20 | 45175881 | missense variant | A/C | snv | 0.16 | 0.16 | 0.020 | 1.000 | 2 | 2009 | 2014 | |||
|
10 | 0.763 | 0.400 | 2 | 113132727 | missense variant | T/A;C | snv | 4.0E-06; 0.31 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 0.925 | 0.080 | 10 | 79557504 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.120 | 10 | 79559458 | missense variant | G/C;T | snv | 2.2E-05; 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 11300924 | intron variant | C/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 9 | 88989662 | upstream gene variant | G/C | snv | 0.37 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
9 | 0.827 | 0.160 | 2 | 85666618 | missense variant | G/A;C | snv | 0.50 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
13 | 0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.080 | 16 | 2319591 | missense variant | C/T | snv | 5.7E-03 | 6.5E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 6 | 105163071 | intron variant | C/T | snv | 0.66 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 4 | 186083346 | missense variant | C/T | snv | 4.1E-04 | 5.2E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.120 | 17 | 2680294 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.120 | 10 | 79613818 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.040 | 2 | 70231632 | intron variant | A/T | snv | 9.7E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 16 | 2279070 | missense variant | G/A | snv | 4.3E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.790 | 0.240 | 16 | 2317763 | missense variant | T/A;C | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 12 | 120322275 | missense variant | C/T | snv | 8.9E-04 | 3.2E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
13 | 0.732 | 0.360 | 8 | 6877909 | 5 prime UTR variant | C/T | snv | 0.36 | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
26 | 0.662 | 0.640 | 10 | 52771475 | missense variant | C/T | snv | 0.14 | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 |