| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 4 | 15984309 | missense variant | T/A;C | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 21 | 38403680 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 4 | 15980426 | missense variant | C/T | snv | 7.5E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.080 | 8 | 10623069 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.807 | 0.080 | 1 | 94055128 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.763 | 0.160 | 6 | 42721821 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 1995 | 2009 | |||||
|
15 | 0.752 | 0.200 | 2 | 55871091 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2011 | 2016 | |||||
|
3 | 0.882 | 0.080 | 6 | 42704570 | missense variant | C/T | snv | 4.8E-05 | 9.8E-05 | 0.700 | 1.000 | 2 | 1997 | 2019 | |||
|
8 | 0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 | 0.700 | 1.000 | 2 | 2005 | 2019 | |||
|
6 | 0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 | 0.700 | 1.000 | 2 | 2001 | 2008 | ||||
|
5 | 0.827 | 0.080 | 1 | 197328844 | inframe insertion | AATTGATGG/-;AATTGATGGAATTGATGG | delins | 7.7E-04 | 0.700 | 1.000 | 2 | 2006 | 2018 | ||||
|
3 | 0.882 | 0.080 | 1 | 197429460 | stop gained | T/A;C | snv | 3.2E-05 | 0.700 | 1.000 | 2 | 2004 | 2018 | ||||
|
5 | 0.882 | 0.040 | 4 | 13369888 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||
|
5 | 0.882 | 0.040 | 4 | 13479429 | splice donor variant | C/G | snv | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||
|
5 | 0.827 | 0.080 | 6 | 42178374 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
8 | 0.790 | 0.200 | 6 | 42173762 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 197477799 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 94063115 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 1 | 197421257 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | X | 46837109 | inframe deletion | TCT/- | delins | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 3 | 101242820 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 11 | 61957403 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 11 | 61959517 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 1 | 94080651 | missense variant | G/C | snv | 1.0E-04 | 3.8E-04 | 0.700 | 1.000 | 1 | 2001 | 2001 |