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 | 94536311 | intron variant | T/C | snv | 3.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 19 | 1063444 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.776 | 0.200 | 7 | 73702147 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.040 | 16 | 88502423 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
19 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.807 | 0.240 | 2 | 233763993 | intron variant | G/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.240 | 2 | 227813126 | intron variant | T/C | snv | 0.24 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
10 | 0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.360 | 6 | 43957870 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.925 | 0.080 | 8 | 105569300 | intron variant | A/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 9 | 2621145 | intron variant | T/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.160 | 17 | 42761487 | intron variant | T/G | snv | 0.12 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.807 | 0.200 | 11 | 71454579 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 203200263 | intergenic variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 19 | 4521613 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 0.750 | 4 | 2002 | 2018 | |||
|
2 | 0.925 | 0.080 | 21 | 42296256 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 9 | 104817351 | missense variant | C/G;T | snv | 3.5E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
11 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2003 | 2014 | ||||
|
8 | 0.790 | 0.160 | 5 | 139379813 | missense variant | C/A;G;T | snv | 4.0E-06; 2.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |