| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
1.000 | 0.940 | 83 | 2001 | 2018 | |||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
1.000 | 0.949 | 78 | 2001 | 2019 | ||||||||
|
0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.100 | 1.000 | 13 | 2007 | 2019 | ||||||||
|
0.790 | 0.200 | 16 | 50710807 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.100 | 0.917 | 12 | 2004 | 2017 | |||||||
|
0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 |
|
0.790 | 1.000 | 10 | 2002 | 2014 | ||||||||
|
0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 |
|
0.830 | 1.000 | 9 | 2007 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 50710966 | missense variant | A/G | snv | 9.6E-04 | 3.8E-03 |
|
0.710 | 1.000 | 7 | 2001 | 2018 | |||||||
|
1.000 | 0.040 | 16 | 50712018 | missense variant | C/G;T | snv | 1.2E-05; 3.2E-03 |
|
0.710 | 1.000 | 7 | 2001 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 50699883 | missense variant | T/C | snv | 1.3E-04 | 5.6E-05 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50710614 | missense variant | C/T | snv | 1.0E-04 | 1.3E-04 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50710654 | missense variant | T/G | snv | 5.6E-04 | 2.6E-04 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50710782 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50710792 | missense variant | C/G | snv | 1.9E-03 | 1.5E-03 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50710813 | missense variant | C/T | snv | 4.4E-05 | 4.2E-05 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50710842 | missense variant | C/A;T | snv | 5.9E-04 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 50711028 | missense variant | C/T | snv | 1.8E-04 | 2.1E-04 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50711206 | missense variant | C/T | snv | 1.6E-04 | 2.3E-04 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50711961 | missense variant | C/G;T | snv | 4.1E-04 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | ||||||||
|
0.882 | 0.080 | 16 | 50712085 | missense variant | C/G | snv | 3.2E-03 | 1.3E-02 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 16 | 50712175 | missense variant | C/T | snv | 2.5E-03 | 3.0E-03 |
|
0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
0.925 | 0.040 | 16 | 50711664 | synonymous variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.040 | 1.000 | 4 | 2005 | 2008 | |||||||
|
0.925 | 0.120 | 16 | 50729867 | missense variant | G/A;C | snv | 4.0E-06; 1.5E-02 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2007 | 2012 | |||||||
|
0.925 | 0.040 | 16 | 50705671 | intron variant | C/G | snv | 0.20 |
|
0.810 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
1.000 | 0.040 | 16 | 50722863 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 3 | 2007 | 2014 | |||||||||
|
0.851 | 0.120 | 16 | 50716899 | missense variant | A/G | snv | 1.2E-03 | 7.5E-04 |
|
0.720 | < 0.001 | 2 | 2014 | 2018 |