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 | 3 | 39094706 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
7 | 0.807 | 0.160 | 5 | 157110499 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 2 | 48981895 | intron variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.120 | 5 | 150070569 | missense variant | T/C | snv | 9.9E-02 | 8.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.807 | 0.160 | 8 | 127519892 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 2 | 208243469 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.080 | 7 | 30504681 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.827 | 0.160 | 1 | 7798075 | intron variant | G/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 1 | 161194005 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
18 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 19 | 41352923 | missense variant | A/C;G | snv | 1.9E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
20 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 9 | 132398145 | synonymous variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.925 | 0.080 | 7 | 99478208 | intron variant | T/C | snv | 0.13 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 7 | 18814978 | intron variant | T/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.080 | 15 | 90881744 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 9 | 87541931 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.851 | 0.160 | 17 | 78224125 | 3 prime UTR variant | T/C | snv | 0.40 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
16 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
12 | 0.807 | 0.240 | 19 | 8371280 | missense variant | C/T | snv | 0.30 | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 1.000 | 0.080 | 12 | 1787790 | 3 prime UTR variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 21 | 45456344 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |