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 | 1 | 151800911 | 3 prime UTR variant | G/A | snv | 0.10 | 5.3E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
7 | 0.827 | 0.200 | 9 | 113391611 | missense variant | C/G | snv | 8.3E-02 | 6.1E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 15 | 101066684 | missense variant | G/A | snv | 0.31 | 0.25 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 12 | 40252984 | missense variant | C/T | snv | 4.9E-04 | 2.4E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.040 | 10 | 102244438 | upstream gene variant | G/A | snv | 0.14 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 10 | 102238914 | intron variant | A/T | snv | 0.66 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 151801375 | missense variant | T/A;C | snv | 9.9E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.160 | 6 | 162262672 | missense variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
6 | 0.851 | 0.120 | 11 | 35308068 | intron variant | G/T | snv | 0.20 | 0.900 | 0.500 | 10 | 2012 | 2018 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.060 | 0.500 | 6 | 2006 | 2016 | |||
|
3 | 0.882 | 0.080 | 16 | 4510300 | 3 prime UTR variant | G/A | snv | 0.54 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
8 | 0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 | 0.020 | 0.500 | 2 | 2014 | 2016 | |||
|
1 | 1.000 | 0.040 | 10 | 67090661 | intron variant | A/G;T | snv | 0.020 | 0.500 | 2 | 2017 | 2018 | |||||
|
9 | 0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 | 0.020 | 0.500 | 2 | 2015 | 2018 | ||||
|
3 | 0.882 | 0.040 | 12 | 40283897 | missense variant | C/T | snv | 7.4E-04 | 2.2E-04 | 0.020 | 0.500 | 2 | 2007 | 2018 | |||
|
5 | 0.827 | 0.120 | 15 | 77680428 | intron variant | C/T | snv | 0.42 | 0.030 | 0.667 | 3 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.040 | 10 | 67085957 | intron variant | T/G | snv | 0.35 | 0.720 | 0.667 | 3 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 24360918 | intergenic variant | T/C | snv | 0.18 | 0.730 | 0.667 | 3 | 2016 | 2018 | ||||
|
4 | 0.851 | 0.080 | 15 | 77671545 | intron variant | A/G | snv | 0.28 | 0.900 | 0.714 | 14 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.040 | 16 | 31189158 | stop gained | C/T | snv | 0.050 | 1.000 | 5 | 2013 | 2016 | |||||
|
1 | 1.000 | 0.040 | 4 | 5126432 | intron variant | T/C | snv | 0.24 | 0.730 | 1.000 | 3 | 2016 | 2018 | ||||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.020 | 1.000 | 2 | 2008 | 2010 | |||
|
18 | 0.708 | 0.320 | 22 | 35380679 | intron variant | A/T | snv | 0.49 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
6 | 0.807 | 0.280 | 2 | 74532698 | missense variant | G/A | snv | 4.0E-03 | 2.5E-03 | 0.020 | 1.000 | 2 | 2014 | 2017 |