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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
10 | 0.790 | 0.280 | 10 | 129766906 | missense variant | A/G | snv | 9.4E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.810 | 1.000 | 3 | 2012 | 2014 | |||
|
1 | 1.000 | 0.120 | 5 | 132662721 | intron variant | G/A | snv | 7.5E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.240 | 9 | 134340689 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.120 | 6 | 135093866 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 6 | 135305210 | intron variant | T/G | snv | 0.70 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.160 | 3 | 136870707 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 6 | 137660447 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 3 | 140450815 | intron variant | A/C | snv | 0.21 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.320 | 8 | 140551294 | intron variant | G/C;T | snv | 0.57; 4.9E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.030 | 1.000 | 3 | 2012 | 2019 | ||||
|
29 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||
|
4 | 0.851 | 0.160 | 19 | 16161878 | intron variant | A/G | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 19 | 1650135 | intron variant | A/C;G | snv | 6.7E-06; 0.54 | 0.810 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 3 | 172524100 | upstream gene variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.763 | 0.400 | 3 | 186620593 | missense variant | G/A;C | snv | 0.67 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
5 | 0.827 | 0.160 | 3 | 188236626 | intron variant | A/C | snv | 0.88 | 0.700 | 1.000 | 2 | 2017 | 2017 | ||||
|
14 | 0.742 | 0.240 | 8 | 19948197 | missense variant | G/A;C | snv | 1.4E-02; 2.0E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 0.500 | 2 | 2013 | 2018 | ||||
|
4 | 0.851 | 0.160 | 2 | 230279864 | intron variant | CTGCCTC/-;CTGCCTCCTGCCTC | delins | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 |