| 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 | 64076947 | intron variant | A/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 43564228 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.776 | 0.080 | 10 | 79059375 | intron variant | A/G | snv | 0.55 |
|
0.810 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.925 | 0.080 | 16 | 2832196 | 3 prime UTR variant | G/T | snv | 0.66 | 0.63 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.732 | 0.200 | 22 | 21630090 | upstream gene variant | G/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.776 | 0.240 | 2 | 216196997 | intron variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.742 | 0.240 | 5 | 83076927 | intron variant | C/T | snv | 1.7E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.200 | 5 | 83075876 | intron variant | C/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 |
|
0.020 | 1.000 | 2 | 2010 | 2015 | ||||||||
|
0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 7 | 152676167 | upstream gene variant | C/G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 7 | 152670531 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.833 | 24 | 2004 | 2016 | |||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.100 | 0.857 | 14 | 2009 | 2016 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.040 | 1.000 | 4 | 2010 | 2013 | ||||||||
|
1.000 | 0.080 | 19 | 43553421 | missense variant | C/T | snv | 2.0E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.090 | 0.889 | 9 | 2007 | 2018 | |||||||
|
0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 |
|
0.050 | 0.800 | 5 | 2011 | 2015 | |||||||
|
0.790 | 0.120 | 9 | 97687210 | missense variant | T/C;G | snv | 1.2E-05; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 |
|
0.020 | 0.500 | 2 | 2010 | 2015 |