| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 |
|
0.900 | 0.979 | 10 | 2006 | 2019 | |||||||
|
0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 |
|
0.900 | 0.852 | 6 | 2009 | 2020 | ||||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.900 | 0.936 | 4 | 2005 | 2019 | |||||||
|
0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 |
|
0.900 | 0.980 | 4 | 2005 | 2019 | |||||||
|
0.790 | 0.160 | 6 | 31946403 | missense variant | G/A;T | snv | 9.6E-02; 4.1E-06 |
|
0.900 | 0.947 | 3 | 2007 | 2019 | ||||||||
|
0.807 | 0.240 | 1 | 196727803 | intron variant | G/A | snv | 0.46 |
|
0.900 | 0.929 | 2 | 2007 | 2019 | ||||||||
|
0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.900 | 0.900 | 1 | 2006 | 2019 | ||||||||
|
0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 |
|
0.890 | 0.900 | 2 | 2010 | 2019 | ||||||||
|
0.851 | 0.160 | 6 | 31962685 | intron variant | G/A | snv | 0.14 | 0.16 |
|
0.870 | 1.000 | 5 | 2010 | 2019 | |||||||
|
0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 |
|
0.860 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.925 | 0.040 | 15 | 58395681 | intron variant | T/C | snv | 0.50 |
|
0.860 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.763 | 0.360 | 6 | 31936027 | missense variant | G/A;C | snv | 4.1E-06; 3.9E-02 |
|
0.860 | 1.000 | 2 | 2006 | 2018 | ||||||||
|
0.807 | 0.040 | 4 | 109737911 | intron variant | T/C | snv | 0.54 |
|
0.840 | 0.875 | 3 | 2010 | 2019 | ||||||||
|
0.882 | 0.040 | 10 | 122459759 | non coding transcript exon variant | C/G | snv | 0.23 |
|
0.840 | 0.833 | 2 | 2010 | 2013 | ||||||||
|
0.807 | 0.040 | 6 | 43858890 | TF binding site variant | C/T | snv | 0.61 |
|
0.840 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.807 | 0.160 | 1 | 196733680 | intron variant | C/T | snv | 0.44 |
|
0.830 | 1.000 | 3 | 2006 | 2019 | ||||||||
|
0.807 | 0.200 | 8 | 23225458 | non coding transcript exon variant | G/A;C;T | snv |
|
0.830 | 1.000 | 2 | 2011 | 2019 | |||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.830 | 0.750 | 2 | 2012 | 2015 | |||||||
|
0.882 | 0.040 | 6 | 43860845 | intergenic variant | T/C | snv | 0.37 |
|
0.830 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
1.000 | 0.040 | 14 | 68318360 | intron variant | G/A | snv | 0.54 |
|
0.830 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.776 | 0.320 | 6 | 32107027 | intron variant | T/C | snv | 0.11 |
|
0.820 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.882 | 0.040 | 4 | 56920284 | intron variant | G/T | snv | 0.92 |
|
0.820 | 0.667 | 1 | 2011 | 2013 | ||||||||
|
0.882 | 0.040 | 6 | 116065971 | intergenic variant | C/A;G;T | snv |
|
0.820 | 0.667 | 1 | 2011 | 2018 | |||||||||
|
0.882 | 0.120 | 3 | 64719689 | intron variant | C/A;G;T | snv |
|
0.820 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
1.000 | 0.040 | 13 | 31245188 | intron variant | T/C | snv | 0.34 |
|
0.820 | 0.667 | 1 | 2013 | 2019 |