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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 6 | 41159841 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 6 | 41161469 | missense variant | C/A;T | snv | 7.6E-03 | 0.740 | 0.800 | 5 | 2015 | 2019 | ||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.900 | 0.923 | 52 | 2013 | 2020 | ||||
|
1 | 1.000 | 0.080 | 6 | 41159805 | missense variant | G/A | snv | 4.9E-03 | 1.8E-03 | 0.050 | 1.000 | 5 | 2016 | 2019 | |||
|
7 | 0.790 | 0.320 | 6 | 41161557 | stop gained | G/A | snv | 2.0E-05 | 2.1E-05 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
5 | 0.827 | 0.120 | 6 | 41161367 | missense variant | G/A;C;T | snv | 1.9E-04; 1.0E-02 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 0.882 | 0.280 | 6 | 41161277 | missense variant | A/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 41161395 | missense variant | C/T | snv | 9.7E-04 | 1.5E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 6 | 41159867 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 41158975 | missense variant | C/T | snv | 1.4E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 41161265 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 6 | 41158917 | missense variant | A/G | snv | 1.8E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.200 | 6 | 41161515 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |