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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 1 | 94021848 | missense variant | C/T | snv | 2.4E-03 | 2.3E-03 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.080 | 1 | 94001992 | missense variant | C/G | snv | 3.0E-03 | 3.0E-03 | 0.700 | 1.000 | 1 | 1997 | 1997 | |||
|
2 | 0.925 | 0.040 | 1 | 93997932 | stop gained | G/A;T | snv | 5.2E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.040 | 1 | 9975747 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 2 | 98396575 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 2 | 169493769 | missense variant | A/G | snv | 4.2E-03 | 3.7E-03 | 0.700 | 1.000 | 1 | 2004 | 2004 | |||
|
7 | 0.827 | 0.080 | 2 | 181558617 | stop gained | G/A;C | snv | 3.5E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 169492899 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 2 | 96799118 | stop gained | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 2 | 98396137 | missense variant | G/C | snv | 7.6E-05 | 3.2E-04 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 2 | 181603835 | splice donor variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins | 0.700 | 0 | ||||||||
|
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 | |||||
|
26 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 6 | 42722255 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
11 | 0.763 | 0.080 | 6 | 42721911 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.120 | 8 | 86632864 | missense variant | C/T | snv | 4.6E-03 | 1.8E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 9 | 2729470 | stop gained | G/A;T | snv | 1.3E-04; 2.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 53823066 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 11 | 67458392 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.040 | 12 | 55721287 | missense variant | G/A;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
9 | 0.807 | 0.160 | 12 | 89492071 | stop gained | C/A;G;T | snv | 8.5E-06; 2.7E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.827 | 0.160 | 16 | 56501014 | stop gained | G/A;C | snv | 2.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 17 | 8003354 | missense variant | G/A | snv | 3.5E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 |