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 | 0.925 | 11 | 67483198 | stop gained | C/T | snv | 2.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 8 | 127395871 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 3 | 177053096 | intron variant | C/T | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 142877100 | missense variant | T/C | snv | 2.0E-04 | 4.5E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 1.000 | 6 | 10874335 | missense variant | T/G | snv | 6.6E-04 | 4.9E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | X | 131278706 | missense variant | T/C;G | snv | 3.8E-05; 9.5E-03 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 14158408 | missense variant | C/T | snv | 4.2E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 8 | 17578682 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 11 | 128863066 | intron variant | G/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 6 | 10874372 | missense variant | C/T | snv | 5.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 3 | 53673113 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 186671393 | downstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 1.000 | 8 | 18216433 | intron variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 12 | 6537702 | missense variant | A/G | snv | 2.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1 | 159713878 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 16 | 30121948 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 2 | 233767063 | synonymous variant | A/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
6 | 0.851 | 0.080 | 19 | 14097604 | missense variant | A/C | snv | 0.030 | 1.000 | 3 | 2015 | 2017 | |||||
|
4 | 0.925 | 0.080 | 11 | 128911776 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2012 | 2012 | |||||
|
6 | 0.925 | 0.080 | 8 | 127397266 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
11 | 0.776 | 0.080 | 10 | 8697617 | intergenic variant | T/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.080 | 14 | 81143584 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
4 | 0.925 | 0.080 | 13 | 105370372 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.080 | 11 | 108344670 | intron variant | T/G | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 21 | 45528653 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2011 | 2011 |