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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 7 | 55174782 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
4 | 0.851 | 0.080 | 7 | 55174777 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.100 | 0.981 | 103 | 2005 | 2019 | |||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.100 | 0.968 | 31 | 2006 | 2019 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.100 | 0.968 | 31 | 2006 | 2019 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.100 | 0.968 | 31 | 2006 | 2019 | |||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 2006 | 2018 | |||||
|
8 | 0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2008 | 2014 | |||
|
3 | 0.882 | 0.080 | 7 | 55027504 | intron variant | A/G | snv | 0.59 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
4 | 0.851 | 0.080 | 7 | 55200333 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.790 | 0.120 | 7 | 55174029 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
15 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.240 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.080 | 7 | 55191839 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
11 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.080 | 7 | 55201305 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.080 | 7 | 55156796 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.120 | 7 | 55205492 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 7 | 55201275 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.080 | 7 | 55191792 | missense variant | C/A;T | snv | 8.0E-06; 3.6E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | 7 | 55146649 | synonymous variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.763 | 0.160 | 7 | 55146655 | synonymous variant | C/T | snv | 0.51 | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.080 | 7 | 55201223 | synonymous variant | C/T | snv | 0.14 | 9.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.882 | 0.080 | 7 | 55143443 | missense variant | G/A | snv | 5.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
9 | 0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 |