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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.080 | 7 | 117531040 | frameshift variant | -/GA | ins | 4.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2008 | ||||
|
2 | 1.000 | 0.040 | 6 | 32713272 | upstream gene variant | A/C | snv | 0.29 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
6 | 0.807 | 0.160 | 7 | 117531041 | missense variant | A/C;G;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2008 | ||||
|
11 | 0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv | 0.030 | 1.000 | 3 | 1999 | 2011 | |||||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.060 | 1.000 | 6 | 2001 | 2011 | ||||
|
3 | 0.882 | 0.040 | 7 | 142750582 | missense variant | A/G | snv | 0.040 | 1.000 | 4 | 2000 | 2020 | |||||
|
10 | 0.763 | 0.120 | 16 | 84845883 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2002 | 2020 | |||
|
2 | 0.925 | 0.040 | 7 | 142750579 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2000 | 2006 | |||||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.080 | X | 106917472 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
6 | 0.851 | 0.080 | 12 | 52904822 | missense variant | A/G;T | snv | 1.7E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.040 | 9 | 95555669 | intergenic variant | A/T | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.882 | 0.120 | 8 | 19960948 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
19 | 0.701 | 0.240 | 12 | 52904798 | missense variant | C/A | snv | 4.9E-03 | 5.4E-03 | 0.020 | 1.000 | 2 | 2006 | 2006 | |||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.763 | 0.240 | 3 | 122284955 | missense variant | C/A;G | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
8 | 0.827 | 0.040 | 7 | 142751919 | missense variant | C/A;T | snv | 4.0E-06; 7.2E-05 | 0.020 | 1.000 | 2 | 2001 | 2005 | ||||
|
1 | 1.000 | 0.040 | X | 106919404 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.040 | 7 | 142751937 | missense variant | C/G;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
4 | 0.851 | 0.120 | 8 | 19955863 | missense variant | C/G;T | snv | 1.5E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 7 | 117590391 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 | 0.040 | 1.000 | 4 | 2000 | 2010 |