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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 10 | 113080735 | intron variant | G/A | snv | 0.25 | 0.020 | < 0.001 | 2 | 2010 | 2012 | ||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.020 | < 0.001 | 2 | 2007 | 2008 | ||||
|
6 | 0.807 | 0.360 | 12 | 47845892 | intron variant | C/T | snv | 0.12 | 0.020 | < 0.001 | 2 | 2012 | 2019 | ||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 12 | 56777732 | intron variant | T/C | snv | 0.21 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 19 | 7182952 | intron variant | A/C | snv | 0.25 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
7 | 0.851 | 0.160 | 11 | 92965261 | upstream gene variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 12 | 56782391 | intron variant | C/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 19 | 41355432 | intron variant | -/CTC;CTCATGTCCCTGCCCTCCCTCCTC | delins | 0.70 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.120 | 19 | 55322296 | intron variant | A/G | snv | 0.35 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.280 | 3 | 186850391 | intron variant | G/T | snv | 0.35 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.280 | 10 | 5094459 | missense variant | C/G | snv | 0.50 | 0.45 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.200 | 10 | 52316511 | intron variant | A/G | snv | 0.41 | 0.42 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 8 | 81483950 | intron variant | C/G | snv | 0.16 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 8 | 81484124 | intron variant | A/G | snv | 0.16 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 2 | 61295935 | intron variant | C/G | snv | 0.15 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 2 | 61391463 | intron variant | C/T | snv | 0.12 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
11 | 0.752 | 0.320 | 3 | 186841671 | upstream gene variant | G/A | snv | 5.3E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
11 | 0.763 | 0.280 | 17 | 7630105 | 5 prime UTR variant | G/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 2 | 226797205 | missense variant | C/G | snv | 1.4E-02 | 1.3E-02 | 0.010 | < 0.001 | 1 | 2006 | 2006 |