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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.120 | 4 | 73404356 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.120 | 7 | 37161008 | intron variant | G/A | snv | 0.61 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.240 | 14 | 102229508 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | < 0.001 | 1 | 2001 | 2001 | ||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
18 | 0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
13 | 0.742 | 0.360 | 7 | 22728953 | intron variant | C/G | snv | 0.27 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.360 | 1 | 169704697 | missense variant | G/A;T | snv | 0.21; 3.2E-05 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
6 | 0.851 | 0.200 | 15 | 79862640 | intron variant | C/T | snv | 0.31 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.200 | 17 | 80715103 | intron variant | A/G | snv | 0.23 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 7 | 36865445 | intron variant | C/A | snv | 0.46 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 17 | 80741808 | intron variant | A/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 19 | 10194877 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.020 | 0.500 | 2 | 2012 | 2017 | |||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.020 | 0.500 | 2 | 2011 | 2013 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.020 | 0.500 | 2 | 1998 | 2007 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.060 | 0.667 | 6 | 2007 | 2012 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.070 | 0.714 | 7 | 2007 | 2017 | |||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.050 | 0.800 | 5 | 1996 | 2019 |