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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.080 | 4 | 127882004 | intron variant | G/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.827 | 0.120 | 4 | 73435667 | intron variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.851 | 0.080 | 3 | 168680960 | intron variant | AA/-;A;AAA | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 17 | 7670637 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.763 | 0.200 | 2 | 54118332 | intron variant | C/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.827 | 0.120 | 4 | 73451012 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 3 | 129091263 | missense variant | C/T | snv | 4.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.080 | 8 | 13090431 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.080 | 12 | 52492759 | missense variant | G/C | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.160 | 17 | 42322464 | missense variant | T/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 20 | 44414561 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.080 | 2 | 216122110 | missense variant | T/A | snv | 3.5E-04 | 1.1E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.807 | 0.160 | 2 | 54253232 | 3 prime UTR variant | C/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.200 | 2 | 54251980 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.120 | 5 | 141625349 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 |