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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.030 | 1.000 | 3 | 2004 | 2010 | ||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.020 | 0.500 | 2 | 2004 | 2006 | |||
|
4 | 0.925 | 0.120 | 5 | 132369766 | 5 prime UTR variant | C/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2006 | 2014 | |||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.020 | 0.500 | 2 | 2006 | 2015 | |||
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.050 | 1.000 | 5 | 2008 | 2019 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.040 | 1.000 | 4 | 2008 | 2019 | |||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.040 | 1.000 | 4 | 2008 | 2019 | ||||
|
12 | 0.742 | 0.400 | 1 | 67219704 | missense variant | T/A;C | snv | 0.88 | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2011 | |||||
|
8 | 0.807 | 0.240 | 5 | 132660808 | 3 prime UTR variant | A/C | snv | 0.67 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
14 | 0.742 | 0.200 | 6 | 111592059 | missense variant | C/T | snv | 8.6E-02 | 9.7E-02 | 0.820 | 1.000 | 4 | 2010 | 2015 | |||
|
4 | 0.851 | 0.120 | 1 | 152578800 | downstream gene variant | A/G;T | snv | 0.030 | 0.667 | 3 | 2010 | 2014 | |||||
|
1 | 1.000 | 0.080 | 6 | 111591867 | missense variant | G/A | snv | 5.3E-02 | 5.0E-02 | 0.710 | 1.000 | 2 | 2010 | 2019 | |||
|
6 | 0.807 | 0.120 | 5 | 159402519 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 6 | 31273332 | intron variant | C/G;T | snv | 0.13 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.160 | 1 | 152577542 | downstream gene variant | T/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.020 | 1.000 | 2 | 2011 | 2011 | |||
|
3 | 0.882 | 0.160 | 2 | 60937196 | non coding transcript exon variant | G/A | snv | 0.25 | 0.810 | 1.000 | 3 | 2012 | 2015 | ||||
|
9 | 0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2014 | |||||
|
11 | 0.742 | 0.400 | 1 | 161626196 | missense variant | C/A;G;T | snv | 1.5E-03; 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
29 | 0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 3 | 17031505 | intron variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2012 | 2012 |