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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.240 | 11 | 108247072 | missense variant | G/A | snv | 8.0E-05 | 6.3E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
4 | 0.925 | 0.200 | 17 | 43093472 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.200 | 17 | 43106475 | splice donor variant | CATA/- | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.200 | 17 | 43092379 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.200 | 2 | 47799386 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.200 | 17 | 43106467 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.200 | 17 | 43106457 | frameshift variant | T/-;TT | delins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.200 | 2 | 214728813 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
16 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 0.700 | 1.000 | 34 | 1994 | 2013 | ||||
|
12 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 0.700 | 1.000 | 33 | 2001 | 2019 | ||||
|
9 | 0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 | 0.700 | 1.000 | 30 | 1994 | 2014 | ||||
|
10 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 0.700 | 1.000 | 29 | 1995 | 2015 | ||||
|
11 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 28 | 1994 | 2016 | ||||
|
6 | 0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 | 0.700 | 1.000 | 28 | 1994 | 2013 | ||||
|
8 | 0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 27 | 1997 | 2017 | ||||
|
6 | 0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 26 | 1996 | 2016 | ||||
|
7 | 0.851 | 0.200 | 17 | 43057122 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 26 | 2004 | 2019 | |||||
|
4 | 0.882 | 0.280 | 13 | 32362595 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 23 | 2002 | 2019 | ||||
|
6 | 0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 23 | 1997 | 2014 | |||||
|
5 | 0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 22 | 2000 | 2017 | ||||
|
3 | 0.925 | 0.200 | 17 | 43106528 | missense variant | C/A;T | snv | 0.700 | 1.000 | 22 | 1996 | 2018 | |||||
|
7 | 0.827 | 0.200 | 17 | 43124028 | frameshift variant | CT/-;CTCT | delins | 0.700 | 1.000 | 22 | 1994 | 2018 |