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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 1 | 119975336 | intron variant | G/T | snv | 0.17 | 0.820 | 1.000 | 7 | 2007 | 2017 | ||||
|
4 | 1.000 | 0.080 | 10 | 12265895 | TF binding site variant | C/T | snv | 0.23 | 0.800 | 1.000 | 7 | 2013 | 2019 | ||||
|
10 | 0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv | 0.070 | 1.000 | 7 | 2002 | 2019 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.070 | 1.000 | 7 | 2006 | 2018 | ||||
|
4 | 0.882 | 0.200 | 2 | 240591757 | non coding transcript exon variant | G/A | snv | 0.23 | 0.770 | 0.857 | 7 | 2006 | 2016 | ||||
|
3 | 0.925 | 0.120 | 6 | 20657333 | intron variant | A/G | snv | 0.41 | 0.830 | 1.000 | 7 | 2009 | 2019 | ||||
|
3 | 0.925 | 0.120 | 20 | 44360627 | intron variant | G/A | snv | 0.18 | 0.830 | 1.000 | 7 | 2011 | 2017 | ||||
|
2 | 0.925 | 0.120 | 4 | 1316113 | intron variant | C/G;T | snv | 0.840 | 1.000 | 7 | 2011 | 2019 | |||||
|
3 | 0.925 | 0.120 | 15 | 77454848 | intron variant | A/G | snv | 0.63 | 0.810 | 1.000 | 7 | 2011 | 2017 | ||||
|
4 | 0.925 | 0.080 | 20 | 44414511 | missense variant | C/T | snv | 0.070 | 1.000 | 7 | 2003 | 2017 | |||||
|
1 | 1.000 | 0.080 | 13 | 80143021 | intergenic variant | G/A | snv | 0.23 | 0.810 | 1.000 | 6 | 2010 | 2019 | ||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.730 | 1.000 | 6 | 2009 | 2019 | ||||
|
2 | 1.000 | 0.080 | 11 | 2800385 | intron variant | A/C | snv | 0.67 | 0.060 | 0.833 | 6 | 2009 | 2019 | ||||
|
11 | 0.752 | 0.320 | 3 | 186841671 | upstream gene variant | G/A | snv | 5.3E-02 | 0.060 | 0.833 | 6 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.120 | 15 | 89831025 | 3 prime UTR variant | C/A | snv | 0.72 | 0.820 | 1.000 | 6 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 2837210 | intron variant | G/A;T | snv | 0.810 | 1.000 | 6 | 2011 | 2019 | |||||
|
1 | 1.000 | 0.080 | 2 | 60357684 | intron variant | G/A | snv | 0.45 | 0.820 | 1.000 | 6 | 2010 | 2017 | ||||
|
3 | 1.000 | 0.080 | 9 | 4289050 | intron variant | C/A;G | snv | 0.750 | 1.000 | 6 | 2011 | 2019 | |||||
|
7 | 0.882 | 0.080 | 2 | 226155937 | TF binding site variant | A/G | snv | 0.36 | 0.820 | 1.000 | 6 | 2010 | 2018 | ||||
|
14 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 0.060 | 0.667 | 6 | 1999 | 2017 | |||||
|
7 | 0.827 | 0.200 | 12 | 71269322 | intron variant | C/T | snv | 0.75 | 0.840 | 1.000 | 6 | 2008 | 2017 | ||||
|
3 | 0.882 | 0.160 | 15 | 90978107 | intron variant | C/A | snv | 0.54 | 0.810 | 1.000 | 6 | 2010 | 2017 | ||||
|
4 | 0.851 | 0.160 | 11 | 41893816 | intergenic variant | C/A | snv | 9.8E-02 | 0.840 | 1.000 | 6 | 2007 | 2011 | ||||
|
4 | 0.882 | 0.120 | 6 | 20717024 | intron variant | T/C | snv | 0.30 | 0.830 | 1.000 | 6 | 2007 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 119389891 | intron variant | C/T | snv | 0.39 | 0.850 | 1.000 | 5 | 2013 | 2018 |