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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 5 | 132481024 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.160 | 7 | 7932654 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 19 | 45099523 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
9 | 0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.120 | 10 | 103093198 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.790 | 0.240 | 10 | 61958720 | intron variant | C/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 2 | 200659013 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 5 | 112737780 | intron variant | T/C | snv | 5.4E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.200 | 8 | 63026205 | missense variant | G/A | snv | 8.8E-02 | 7.8E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
27 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.040 | 5 | 112707537 | 5 prime UTR variant | C/T | snv | 4.8E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.040 | 22 | 39017772 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.200 | 8 | 38415905 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.851 | 0.080 | 9 | 130873027 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.120 | 9 | 130862970 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |