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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.080 | 1.000 | 8 | 2003 | 2018 | ||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.050 | 1.000 | 5 | 2007 | 2012 | ||||
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.030 | 1.000 | 3 | 1998 | 2020 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.030 | 1.000 | 3 | 2006 | 2016 | ||||
|
10 | 0.763 | 0.120 | 19 | 44909101 | missense variant | C/G;T | snv | 3.9E-04; 1.0E-05 | 0.030 | 0.667 | 3 | 1993 | 1997 | ||||
|
6 | 0.827 | 0.120 | 8 | 19955896 | frameshift variant | CT/- | delins | 0.030 | 1.000 | 3 | 2000 | 2016 | |||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2001 | 2010 | ||||
|
1 | 11 | 116790406 | stop gained | G/A;C | snv | 4.1E-05; 8.1E-06 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2006 | 2013 | |||||
|
5 | 0.851 | 0.120 | 19 | 44908730 | missense variant | G/A;C | snv | 1.6E-04; 6.3E-06 | 0.020 | 1.000 | 2 | 1984 | 1997 | ||||
|
6 | 0.851 | 0.200 | 11 | 116829426 | upstream gene variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||
|
3 | 0.925 | 0.120 | 1 | 156137730 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 1.000 | 0.120 | 1 | 55060755 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
6 | 1.000 | 0.120 | 1 | 62531167 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 12 | 121004867 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.080 | 16 | 869982 | stop gained | G/A;C | snv | 1.6E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.120 | 19 | 44908756 | missense variant | C/A;T | snv | 1.3E-05; 9.0E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
5 | 0.882 | 0.080 | 19 | 44908786 | missense variant | A/C;G | snv | 6.5E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
12 | 0.790 | 0.160 | 17 | 41612325 | missense variant | G/T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
1 | 19 | 4171402 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 16 | 868990 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |