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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.763 | 0.320 | 2 | 166242648 | missense variant | A/G | snv | 0.88 | 0.88 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 10 | 113850156 | missense variant | C/A;G | snv | 4.0E-06; 0.77 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
26 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.120 | 12 | 57471538 | missense variant | G/A | snv | 0.50 | 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
7 | 0.827 | 0.120 | 2 | 165295879 | splice acceptor variant | G/A | snv | 8.4E-02 | 6.2E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
9 | 0.827 | 0.120 | 17 | 15231047 | missense variant | G/A | snv | 4.0E-03 | 3.7E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
22 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 1.000 | 19 | 50268255 | missense variant | G/A;T | snv | 6.2E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 9 | 34990673 | missense variant | C/T | snv | 1.2E-04 | 1.3E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 12 | 120438230 | splice donor variant | G/A;C | snv | 4.0E-06; 4.9E-05 | 0.700 | 0 | |||||||||
|
3 | 1.000 | 0.120 | 11 | 85654139 | stop gained | C/T | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.080 | 20 | 13072400 | missense variant | T/C | snv | 2.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.080 | 3 | 25729208 | frameshift variant | ATTG/- | delins | 1.7E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 2 | 232540617 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.200 | 16 | 16178934 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.080 | 1 | 34784887 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 |