| 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 | 0.040 | 2 | 101088883 | intron variant | T/C | snv | 8.1E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.200 | 1 | 11022451 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.851 | 0.160 | 1 | 11022464 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.827 | 0.040 | 12 | 79430071 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.080 | 21 | 32695106 | missense variant | C/T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.120 | 8 | 109575782 | frameshift variant | GA/- | delins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 3 | 67406609 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 16 | 681593 | missense variant | G/A | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 16 | 681186 | missense variant | A/G | snv | 4.8E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.716 | 0.440 | 2 | 190986921 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 3 | 187037169 | intron variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 2 | 54622367 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.080 | 11 | 121577381 | synonymous variant | T/G | snv | 0.32 | 0.23 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.120 | 21 | 31659806 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.827 | 0.120 | 21 | 31663841 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv |
|
0.020 | 0.500 | 2 | 2001 | 2019 | |||||||||
|
0.925 | 0.080 | 4 | 89839677 | non coding transcript exon variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.776 | 0.240 | 4 | 89716450 | intron variant | G/A | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.030 | 1.000 | 3 | 2013 | 2018 | |||||||||
|
0.851 | 0.160 | 4 | 89828148 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.240 | 20 | 10253609 | intron variant | G/A | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 246021301 | intron variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |