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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 0.900 | 1.000 | 11 | 2011 | 2019 | ||||
|
3 | 0.882 | 0.120 | 19 | 1063444 | intron variant | A/C;G | snv | 0.860 | 1.000 | 10 | 2013 | 2019 | |||||
|
2 | 1.000 | 0.080 | 19 | 1056493 | missense variant | G/C;T | snv | 0.84; 4.1E-06 | 0.850 | 0.833 | 6 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 1050421 | intron variant | A/G | snv | 1.7E-02 | 0.830 | 0.667 | 3 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 1039324 | upstream gene variant | C/G;T | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 1043639 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 19 | 1053525 | synonymous variant | C/A;G;T | snv | 1.1E-05; 0.17; 6.9E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 1039445 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 19 | 1061893 | splice region variant | G/A;C | snv | 2.5E-03 | 0.020 | 1.000 | 2 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 19 | 1044727 | missense variant | C/G | snv | 2.2E-04 | 2.1E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 19 | 1043749 | missense variant | A/G | snv | 5.5E-02 | 0.10 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 19 | 1043104 | missense variant | G/A | snv | 4.2E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 19 | 1052854 | intron variant | A/G | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |