| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 |
|
0.710 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.040 | 1 | 13607281 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.040 | 1 | 13610421 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.090 | 1.000 | 9 | 2011 | 2019 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.090 | 1.000 | 9 | 2011 | 2019 | ||||||||
|
0.851 | 0.040 | MT | 14798 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.040 | 1 | 169376605 | missense variant | T/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 4 | 177339718 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 7 | 18591621 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 7 | 18644690 | missense variant | G/A;T | snv | 4.1E-05; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.160 | 22 | 18918421 | missense variant | A/G | snv | 5.2E-03 | 2.8E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 19 | 2014038 | non coding transcript exon variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 1 | 20638098 | missense variant | C/G;T | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.100 | 0.969 | 32 | 2009 | 2020 | ||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2011 | |||||||||
|
0.742 | 0.040 | 2 | 208248468 | synonymous variant | G/A | snv | 5.1E-02 | 6.8E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.040 | 9 | 21968200 | 3 prime UTR variant | C/A;G | snv | 4.0E-06; 0.88 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 9 | 21968756 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.807 | 0.080 | 9 | 21974503 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |