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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.120 | 2 | 29209798 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
16 | 61824185 | intron variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.240 | 17 | 5521757 | missense variant | T/C | snv | 0.45 | 0.47 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.724 | 0.280 | 17 | 72404025 | non coding transcript exon variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 19 | 7914916 | upstream gene variant | G/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.240 | 19 | 13836482 | non coding transcript exon variant | G/A | snv | 1.2E-02 | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 8 | 1979843 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 15 | 45043305 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.080 | 17 | 12992957 | missense variant | C/A;T | snv | 4.0E-06; 5.3E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.716 | 0.360 | 21 | 31659813 | missense variant | T/C;G | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 4 | 54274869 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.120 | 19 | 17881961 | missense variant | A/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.882 | 0.160 | 2 | 48688064 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.776 | 0.280 | 2 | 48688065 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.120 | 17 | 7674965 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 |