| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 17 | 37743574 | intron variant | A/G | snv | 0.43 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.851 | 0.200 | 17 | 37742390 | intron variant | G/A | snv | 0.50 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
0.730 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.925 | 0.080 | 6 | 21648854 | regulatory region variant | G/A | snv | 0.55 |
|
0.710 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.710 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 |
|
0.710 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.710 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 |
|
0.700 | 1.000 | 2 | 2000 | 2004 | ||||||||
|
1.000 | 0.080 | 8 | 128587032 | intergenic variant | C/G | snv | 0.86 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.882 | 0.200 | 2 | 47783292 | missense variant | C/A;T | snv | 4.1E-06; 9.4E-05 |
|
0.700 | 1.000 | 2 | 2000 | 2004 | ||||||||
|
0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 |
|
0.700 | 1.000 | 2 | 2000 | 2004 | ||||||||
|
1.000 | 0.080 | 15 | 40029923 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.080 | 11 | 32468118 | intergenic variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 12 | 114776743 | downstream gene variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.160 | 17 | 37739961 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 17 | 37737784 | intron variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 17 | 31319014 | missense variant | G/A;C | snv | 0.59; 6.0E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 37607755 | downstream gene variant | T/C | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 225764772 | regulatory region variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 17 | 37740776 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.120 | 17 | 37743881 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 8 | 14014030 | intergenic variant | T/G | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 11 | 73070209 | intron variant | C/T | snv | 9.6E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |