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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 7 | 130782095 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.040 | 13 | 37599679 | upstream gene variant | A/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 8 | 54626835 | missense variant | A/T | snv | 0.34 | 0.33 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1 | 183040142 | intron variant | C/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.925 | 0.120 | 7 | 116551247 | intron variant | C/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.882 | 0.120 | 15 | 90873320 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 15 | 58568764 | synonymous variant | C/A;G | snv | 0.19; 2.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
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 | ||||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.040 | 0.750 | 4 | 1984 | 2004 | ||||
|
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 | ||||
|
1 | 19 | 4171402 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 1.000 | 0.120 | 1 | 230158968 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.120 | 8 | 19955900 | missense variant | C/G | snv | 1.1E-04 | 6.3E-05 | 0.030 | 1.000 | 3 | 2000 | 2016 | |||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.020 | 0.500 | 2 | 2004 | 2012 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2006 | 2013 | |||||
|
14 | 0.763 | 0.240 | 7 | 73606007 | missense variant | C/G | snv | 0.10 | 9.4E-02 | 0.020 | 1.000 | 2 | 2014 | 2014 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
5 | 0.851 | 0.200 | 10 | 87864461 | 5 prime UTR variant | C/G | snv | 3.8E-03 | 1.4E-03 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
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 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2015 |