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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
37 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 3 | 49902723 | missense variant | A/G | snv | 8.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
8 | 0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 | 0.010 | < 0.001 | 1 | 2000 | 2000 | ||||
|
1 | 17 | 39724864 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
17 | 0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
6 | 0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
4 | 0.882 | 0.080 | 18 | 50273809 | missense variant | G/A;C | snv | 3.6E-05; 0.19 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
10 | 0.790 | 0.120 | 7 | 116700208 | missense variant | A/G | snv | 2.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
15 | 0.752 | 0.240 | 17 | 7674257 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
38 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.882 | 0.120 | 18 | 54294435 | missense variant | G/A | snv | 0.72 | 0.78 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
12 | 0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
10 | 0.763 | 0.280 | 3 | 129436608 | missense variant | C/T | snv | 5.8E-02 | 3.1E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 9 | 117712651 | missense variant | A/G | snv | 6.5E-04 | 4.3E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
7 | 0.827 | 0.120 | 7 | 55019338 | missense variant | G/A;T | snv | 1.1E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 1.000 | 0.080 | 11 | 35206195 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.851 | 0.200 | 7 | 87601024 | 5 prime UTR variant | A/G | snv | 0.020 | 0.500 | 2 | 2006 | 2008 | |||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.080 | 19 | 41337556 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |