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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 2 | 71511847 | missense variant | G/A | snv | 7.1E-03 | 4.1E-03 | 0.700 | 0 | ||||||
|
22 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 0.700 | 0 | ||||||
|
17 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.827 | 0.120 | 3 | 49723648 | missense variant | C/G | snv | 4.5E-06; 7.0E-04 | 5.3E-04 | 0.700 | 1.000 | 7 | 2013 | 2017 | |||
|
3 | 0.882 | 0.200 | 17 | 50167653 | missense variant | C/T | snv | 4.6E-04 | 4.5E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.925 | 0.120 | 2 | 151501423 | stop gained | G/A | snv | 2.7E-04 | 3.0E-04 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.160 | 14 | 77278764 | missense variant | T/C | snv | 5.6E-05 | 9.8E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 2 | 178790707 | splice donor variant | C/T | snv | 4.8E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 20 | 38156054 | missense variant | G/A | snv | 2.4E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.160 | 11 | 22255403 | stop gained | C/T | snv | 1.6E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
22 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.160 | 19 | 46756837 | missense variant | A/G | snv | 1.2E-04 | 2.1E-05 | 0.700 | 0 | ||||||
|
7 | 0.882 | 0.160 | 2 | 178533255 | frameshift variant | C/- | delins | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 1 | 156138575 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 8 | 86427804 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 1 | 228316753 | missense variant | C/T | snv | 3.3E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.120 | 3 | 49722057 | missense variant | G/A;T | snv | 1.0E-04; 1.2E-05 | 0.700 | 1.000 | 6 | 2015 | 2017 | ||||
|
19 | 0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del | 0.700 | 1.000 | 3 | 2016 | 2018 | |||||
|
6 | 0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
13 | 0.882 | 0.120 | 5 | 137870815 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
4 | 0.882 | 0.120 | 5 | 137870830 | missense variant | C/G;T | snv | 3.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 7 | 128858475 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.120 | 1 | 156134839 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.120 | 1 | 235450286 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 18 | 2724901 | missense variant | G/A;C;T | snv | 4.9E-06; 4.9E-06; 4.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |