| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 8 | 24944767 | intergenic variant | A/G | snv | 0.70 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.790 | 0.200 | 4 | 184632307 | missense variant | C/G | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv |
|
0.020 | 1.000 | 2 | 2005 | 2007 | |||||||||
|
0.882 | 0.080 | 2 | 214809617 | 5 prime UTR variant | A/G | snv | 0.73 | 0.74 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.020 | 1.000 | 2 | 2011 | 2014 | |||||||
|
0.851 | 0.080 | 17 | 51171503 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 1995 | 1999 | |||||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.020 | 0.500 | 2 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 6 | 105080213 | 3 prime UTR variant | T/A | snv | 0.52 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 |
|
0.020 | 0.500 | 2 | 2019 | 2019 | ||||||||
|
0.776 | 0.200 | 11 | 1996209 | non coding transcript exon variant | C/G;T | snv | 0.46; 5.2E-06 |
|
0.020 | 0.500 | 2 | 2019 | 2019 | ||||||||
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
0.020 | 1.000 | 2 | 2012 | 2018 | |||||||
|
0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.851 | 0.080 | 2 | 214771070 | intron variant | T/C | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.807 | 0.120 | 14 | 73192844 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2000 | 2001 | |||||||||
|
0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.882 | 0.080 | 3 | 158460535 | intron variant | G/A | snv | 0.51 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.851 | 0.160 | 20 | 4699870 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 1997 | 2000 | |||||||||
|
0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.851 | 0.080 | 2 | 29209789 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
0.882 | 0.080 | 5 | 55865274 | intron variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 1 | 161743067 | intergenic variant | C/T | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 |