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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.732 | 0.440 | 14 | 35405593 | upstream gene variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 14 | 35405064 | upstream gene variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.120 | 8 | 20178722 | intron variant | T/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 22 | 36700882 | intron variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 22 | 36701519 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.120 | 5 | 161332120 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 8 | 88077054 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 8 | 88081070 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 15 | 86996687 | intron variant | C/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 2 | 207517878 | intron variant | A/C | snv | 0.17 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
8 | 0.790 | 0.280 | 6 | 131572419 | intron variant | G/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 18 | 9959638 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 18 | 9957921 | 3 prime UTR variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
11 | 0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.160 | 5 | 172767870 | intron variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.080 | 22 | 24441941 | 3 prime UTR variant | -/T | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 1 | 19647903 | intron variant | G/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 8 | 20164494 | intron variant | G/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 2 | 102444391 | intron variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 2 | 102369490 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 18 | 12008848 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 10 | 110505377 | intron variant | G/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
22 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 |