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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.100 | 1.000 | 13 | 2000 | 2018 | |||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 1.000 | 10 | 1985 | 2018 | ||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.080 | 1.000 | 8 | 2000 | 2019 | |||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.050 | 1.000 | 5 | 2003 | 2019 | ||||
|
14 | 0.763 | 0.240 | 11 | 1219991 | splice region variant | G/A;T | snv | 0.050 | 1.000 | 5 | 2011 | 2016 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.040 | 1.000 | 4 | 1998 | 2002 | |||||
|
9 | 0.776 | 0.160 | 16 | 46662452 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2011 | 2015 | |||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.030 | 1.000 | 3 | 2006 | 2019 | ||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.030 | 1.000 | 3 | 2003 | 2018 | ||||
|
11 | 0.742 | 0.160 | 21 | 31663829 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2000 | 2001 | |||||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
18 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
25 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2020 | ||||
|
7 | 0.807 | 0.040 | 10 | 13109270 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2003 | 2013 | |||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.020 | 1.000 | 2 | 2007 | 2008 | ||||
|
10 | 0.763 | 0.160 | 21 | 25897627 | missense variant | C/A;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2017 | ||||
|
19 | 0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 | 0.020 | 1.000 | 2 | 2006 | 2007 | ||||
|
6 | 0.851 | 0.120 | 1 | 53246063 | 3 prime UTR variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||
|
11 | 0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2001 | 2017 | |||||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 1993 | 2005 | |||||
|
17 | 0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 | 0.020 | 1.000 | 2 | 2006 | 2007 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | < 0.001 | 2 | 2014 | 2016 | ||||
|
5 | 0.827 | 0.040 | 3 | 184322862 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.020 | 1.000 | 2 | 2006 | 2006 | ||||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2013 | 2013 |