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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.807 | 0.120 | 1 | 155612098 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.240 | X | 153725586 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
15 | 0.807 | 0.120 | 1 | 155612848 | missense variant | C/T | snv | 3.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 21 | 25954680 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 1 | 226894111 | missense variant | G/A | snv | 1.1E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 4 | 47905303 | missense variant | A/T | snv | 7.1E-03 | 3.4E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 12 | 64495561 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1 | 226888954 | missense variant | A/G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1.000 | 0.080 | 21 | 26000131 | missense variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.160 | 6 | 31557671 | synonymous variant | C/T | snv | 0.16 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 6 | 31557542 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
12 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 6 | 100420903 | missense variant | G/A;T | snv | 1.6E-04; 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 21 | 25911912 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.851 | 0.120 | 1 | 226888097 | missense variant | C/A | snv | 1.9E-04 | 4.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
27 | 0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.790 | 0.200 | 17 | 46014271 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.080 | 14 | 73198094 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.925 | 0.080 | 14 | 73192772 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 17 | 45983493 | missense variant | A/G | snv | 4.0E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.200 | 17 | 45971867 | missense variant | C/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.040 | 7 | 146792514 | intron variant | A/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 17 | 7581494 | missense variant | G/A | snv | 5.4E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 |