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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.807 | 0.120 | 1 | 155612098 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.851 | 0.200 | 8 | 143816981 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
31 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 3 | 181712745 | frameshift variant | GG/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 1 | 168104855 | missense variant | A/T | snv | 2.9E-03 | 8.0E-04 | 0.700 | 0 | ||||||
|
15 | 0.807 | 0.120 | 1 | 155612848 | missense variant | C/T | snv | 3.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
87 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
19 | 0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.160 | 5 | 42699919 | missense variant | C/T | snv | 3.9E-03 | 4.1E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 9 | 136200607 | missense variant | C/T | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 17 | 63918087 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.200 | 8 | 115603883 | stop gained | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.160 | 20 | 38146858 | missense variant | G/A | snv | 4.8E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.160 | 17 | 63917365 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.827 | 0.200 | 1 | 156130693 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.160 | 5 | 42719137 | missense variant | A/C | snv | 0.44 | 0.43 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
7 | 0.790 | 0.120 | 12 | 102475722 | synonymous variant | C/T | snv | 1.2E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.120 | 1 | 180248431 | missense variant | G/A | snv | 8.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.160 | 17 | 63917338 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.120 | 17 | 63917760 | splice region variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.200 | X | 85255275 | frameshift variant | -/A | delins | 0.700 | 1.000 | 2 | 2009 | 2017 | |||||
|
4 | 0.851 | 0.160 | 7 | 30969116 | stop gained | G/A;T | snv | 1.8E-04 | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||
|
4 | 0.851 | 0.160 | 17 | 63917337 | missense variant | C/T | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2020 |