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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 14 | 78714883 | synonymous variant | C/G;T | snv | 8.0E-06; 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 12 | 71939790 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 21619823 | intergenic variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 10 | 35127641 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 71930054 | downstream gene variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 18 | 11774501 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 9 | 76254665 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 19 | 53888383 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 1 | 236518948 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 18039853 | intron variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 2 | 231108702 | missense variant | T/C | snv | 6.3E-03 | 2.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 12 | 79448968 | missense variant | C/G;T | snv | 1.3E-04 | 6.2E-04 | 0.700 | 0 | |||||||
|
5 | 0.925 | 12 | 79353599 | missense variant | T/A | snv | 0.700 | 0 | |||||||||
|
5 | 0.925 | 12 | 79353602 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
5 | 0.925 | 12 | 79448953 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 0.040 | 11 | 46539130 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.040 | 7 | 153838604 | intergenic variant | C/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 1.000 | 0.040 | 12 | 13713238 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 12 | 117313620 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 13 | 46883917 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.040 | 6 | 88151548 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.080 | 2 | 231123707 | stop gained | G/A | snv | 1.5E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 2015 | 2017 | |||
|
2 | 1.000 | 0.080 | 5 | 175445317 | upstream gene variant | A/G | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 14 | 78319734 | intron variant | A/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 11 | 113476233 | upstream gene variant | A/G | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 |