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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 6 | 162201165 | missense variant | C/T | snv | 7.1E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
5 | 0.827 | 0.240 | 7 | 2249951 | missense variant | G/A | snv | 2.2E-02 | 1.8E-02 | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||
|
2 | 0.925 | 0.040 | 5 | 122422868 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
10 | 0.790 | 0.120 | 17 | 45971879 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.882 | 0.120 | 6 | 161785829 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05; 9.6E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.851 | 0.040 | 6 | 161360193 | missense variant | C/T | snv | 2.5E-02 | 2.5E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.040 | 5 | 9332169 | intron variant | T/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.200 | 15 | 89321842 | missense variant | T/C | snv | 6.6E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.040 | 13 | 27435714 | missense variant | G/A;C | snv | 0.15 | 0.15 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.827 | 0.120 | 4 | 41260751 | missense variant | C/A;G;T | snv | 4.0E-05; 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 11 | 123060725 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.040 | 12 | 40283897 | missense variant | C/T | snv | 7.4E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 1 | 109566120 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 7 | 2244708 | missense variant | T/C | snv | 2.1E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
8 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.080 | 15 | 77671545 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 0.060 | 0.833 | 6 | 2001 | 2011 | |||
|
6 | 0.807 | 0.240 | 6 | 32441753 | intron variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.060 | 0.833 | 6 | 2006 | 2013 | ||||
|
7 | 0.807 | 0.080 | 3 | 184327401 | missense variant | G/A;T | snv | 2.1E-04 | 2.8E-04 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.040 | 5 | 96742998 | intron variant | A/G | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
15 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 96710335 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |