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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 1 | 206484465 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
30 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 17 | 69923642 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 12 | 25215476 | missense variant | C/T | snv | 5.5E-04 | 3.0E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 8 | 42300384 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.080 | 4 | 70993635 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 17 | 7676278 | splice region variant | G/A | snv | 2.1E-03 | 8.3E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 5 | 38496535 | splice acceptor variant | C/T | snv | 2.2E-02 | 8.6E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.160 | 1 | 20588679 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 1 | 161543016 | missense variant | T/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 1 | 20589038 | upstream gene variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 11 | 69641374 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 4 | 109999827 | frameshift variant | -/G | delins | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.040 | 5 | 113384697 | intron variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.240 | 7 | 28146272 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |