| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 7 | 155196966 | non coding transcript exon variant | C/T | snv | 2.1E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 41368363 | regulatory region variant | G/A | snv | 5.8E-02 |
|
0.710 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 2 | 24935139 | intergenic variant | T/C | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 14 | 54830325 | intergenic variant | G/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 16 | 75965983 | intergenic variant | A/G | snv | 2.9E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 4 | 55802265 | downstream gene variant | A/G | snv | 0.23 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.160 | 9 | 22200957 | downstream gene variant | G/A | snv | 7.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 205754444 | upstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 32610753 | intergenic variant | C/A | snv | 0.74 |
|
0.810 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 190951729 | intergenic variant | G/A | snv | 0.40 |
|
0.710 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 |
|
0.070 | 0.714 | 7 | 1999 | 2014 | |||||||
|
0.925 | 0.080 | 12 | 9093581 | splice acceptor variant | ATGGT/- | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 |
|
0.090 | 0.889 | 9 | 2006 | 2018 | |||||||
|
0.827 | 0.240 | 9 | 104800523 | missense variant | T/C | snv | 0.71 | 0.60 |
|
0.050 | 0.600 | 5 | 2003 | 2013 | |||||||
|
0.742 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.21 | 0.25 |
|
0.020 | 0.500 | 2 | 2007 | 2012 | |||||||
|
0.790 | 0.240 | 9 | 104794495 | missense variant | T/G | snv | 2.9E-04 | 3.8E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.160 | 9 | 104825752 | missense variant | C/T | snv | 8.2E-02 | 5.5E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 9 | 104826974 | missense variant | C/G;T | snv | 4.3E-04; 5.4E-02 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 9 | 104861748 | synonymous variant | C/G;T | snv | 3.6E-05; 0.30 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 9 | 104800523 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2003 | 2003 | |||||||||
|
0.763 | 0.240 | 9 | 104824472 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.240 | 9 | 104928169 | intron variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 9 | 104928714 | intron variant | G/A | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 9 | 104928254 | intron variant | G/C | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.120 | 9 | 137018032 | missense variant | A/C;G | snv | 0.97 | 0.96 |
|
0.030 | 1.000 | 3 | 2005 | 2013 |