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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
2 | 0.925 | 0.120 | 17 | 17215072 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 0.500 | 2 | 2007 | 2011 | ||||
|
17 | 0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 5 | 112837872 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.240 | 3 | 9750423 | missense variant | G/A;C | snv | 2.2E-03; 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv | 0.020 | 1.000 | 2 | 1999 | 2003 | |||||
|
4 | 0.882 | 0.240 | 3 | 10142088 | missense variant | C/T | snv | 2.0E-04 | 3.8E-04 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
6 | 0.851 | 0.280 | 7 | 116560326 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.120 | 12 | 26336611 | 3 prime UTR variant | G/T | snv | 0.69 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 1 | 109734239 | 3 prime UTR variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.120 | 17 | 17228023 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.240 | 3 | 10146566 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.120 | 12 | 26377610 | intron variant | T/A;C | snv | 0.40 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.020 | 1.000 | 2 | 2017 | 2017 | |||
|
3 | 0.882 | 0.240 | 3 | 169818849 | upstream gene variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.240 | 1 | 17054012 | missense variant | G/A;C | snv | 4.1E-06; 3.1E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 17 | 17228135 | frameshift variant | C/- | del | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 0.500 | 2 | 2007 | 2011 | |||||
|
6 | 0.827 | 0.280 | 1 | 17054017 | start lost | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |