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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 | 0.100 | 0.800 | 10 | 2000 | 2020 | ||||
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv | 0.100 | 0.800 | 10 | 2000 | 2020 | |||||
|
3 | 0.882 | 0.040 | 7 | 142750582 | missense variant | A/G | snv | 0.040 | 1.000 | 4 | 2000 | 2020 | |||||
|
8 | 0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 | 0.040 | 1.000 | 4 | 1997 | 1999 | ||||
|
6 | 0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 | 0.040 | 1.000 | 4 | 2000 | 2010 | ||||
|
9 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 0.820 | 0.667 | 3 | 2012 | 2020 | |||||
|
11 | 0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv | 0.030 | 1.000 | 3 | 1999 | 2011 | |||||
|
10 | 0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 | 0.030 | 1.000 | 3 | 2000 | 2014 | ||||
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.020 | 1.000 | 2 | 1996 | 2020 | ||||
|
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 | ||||
|
2 | 0.925 | 0.040 | 7 | 142750579 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2000 | 2006 | |||||
|
5 | 0.827 | 0.080 | 7 | 117531040 | frameshift variant | -/GA | ins | 4.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2008 | ||||
|
6 | 0.807 | 0.160 | 7 | 117531041 | missense variant | A/C;G;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2008 | ||||
|
9 | 0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 7 | 142751937 | missense variant | C/G;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 8 | 19955863 | missense variant | C/G;T | snv | 1.5E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.882 | 0.160 | 7 | 117642528 | missense variant | G/A;T | snv | 1.3E-03 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | X | 106917472 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 16 | 84838647 | missense variant | T/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 8 | 143215486 | missense variant | G/A;C | snv | 2.5E-05; 8.5E-04 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 7 | 142751775 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.040 | 7 | 142751934 | missense variant | G/A;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 5 | 35670201 | missense variant | G/A;T | snv | 0.10; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
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 |