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 | 1.000 | 0.160 | X | 100665627 | missense variant | G/A;C | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 11 | 102955390 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
4 | 0.925 | 0.160 | 7 | 107690220 | missense variant | A/C;G | snv | 2.0E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
6 | 0.882 | 0.120 | 12 | 114385521 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
5 | 0.925 | 0.120 | 12 | 114401830 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.070 | 1.000 | 7 | 2004 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 14 | 1999 | 2019 | |||
|
9 | 0.790 | 0.160 | 10 | 121517351 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.925 | 0.160 | 11 | 125900000 | missense variant | A/G | snv | 1.1E-03 | 1.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.807 | 0.160 | 5 | 128349391 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.925 | 0.080 | 2 | 135045855 | intron variant | G/T | snv | 0.83 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
19 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 9 | 136500595 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 9 | 136514670 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 8 | 143728570 | stop gained | A/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 1.000 | 2 | 148947018 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2020 | |||||
|
5 | 0.851 | 0.080 | 6 | 1610780 | missense variant | T/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1 | 161548502 | missense variant | T/C | snv | 1.5E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1 | 161626229 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 0.925 | 0.400 | 3 | 167704889 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |