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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 22 | 31278567 | 3 prime UTR variant | G/A | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 14 | 72562470 | missense variant | G/A | snv | 9.0E-02 | 0.10 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.120 | 12 | 38045401 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.120 | 7 | 75985635 | synonymous variant | T/A;C | snv | 4.5E-06; 0.92 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 5 | 38921686 | missense variant | G/A | snv | 3.3E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.120 | 5 | 38845758 | non coding transcript exon variant | G/T | snv | 1.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.790 | 0.120 | 14 | 104769221 | upstream gene variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 15 | 39580382 | upstream gene variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 21 | 37834589 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.776 | 0.120 | 6 | 43775770 | non coding transcript exon variant | C/T | snv | 3.8E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 19 | 43573355 | intron variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 19 | 43554087 | intron variant | C/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 7 | 152677078 | upstream gene variant | C/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 1 | 45330597 | intron variant | G/C | snv | 0.92 | 0.93 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 12 | 104319543 | missense variant | G/A | snv | 2.1E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 6 | 20766466 | intron variant | C/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 20 | 11010490 | intron variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 17 | 73016334 | intron variant | G/C | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 7 | 17339533 | missense variant | G/A | snv | 7.8E-03 | 2.2E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.120 | 8 | 81074718 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.120 | 17 | 7669626 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.120 | 20 | 11007451 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.120 | 20 | 10981287 | intron variant | C/A | snv | 0.19 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 7 | 152684065 | intergenic variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 2 | 221196620 | intergenic variant | C/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 |