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 | 0.925 | 0.120 | 18 | 12780465 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.160 | 12 | 84492794 | intergenic variant | T/G | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.120 | 13 | 82963398 | intron variant | A/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 6 | 32341131 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.200 | 1 | 152417976 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 14 | 24264066 | 5 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 6 | 1510423 | downstream gene variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.851 | 0.200 | 6 | 31834764 | non coding transcript exon variant | T/C | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 6 | 31304544 | intron variant | G/A | snv | 7.4E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.160 | 6 | 52427338 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 17 | 78284479 | intergenic variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 3 | 190325950 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 3 | 190304727 | downstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 20 | 63697389 | synonymous variant | C/T | snv | 0.25 | 0.19 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 1 | 152106838 | 3 prime UTR variant | C/A | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 17 | 74770161 | downstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
7 | 0.807 | 0.400 | 3 | 190321812 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 17 | 74773195 | non coding transcript exon variant | T/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 11 | 7946812 | intergenic variant | C/T | snv | 0.35 | 0.810 | 1.000 | 2 | 2012 | 2016 | ||||
|
2 | 0.925 | 0.120 | 1 | 152205542 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2013 | |||||
|
2 | 0.925 | 0.120 | 10 | 129683009 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 11 | 112160357 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.120 | 4 | 184433820 | intron variant | T/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.160 | 11 | 76567214 | intergenic variant | T/C | snv | 0.59 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
12 | 0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 | 0.840 | 0.833 | 6 | 2009 | 2017 |