| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 |
|
0.830 | 0.857 | 7 | 2012 | 2019 | |||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.840 | 1.000 | 7 | 2008 | 2016 | |||||||||
|
0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 |
|
0.820 | 1.000 | 6 | 2014 | 2019 | ||||||||
|
0.776 | 0.320 | 2 | 203745673 | intergenic variant | C/A;T | snv |
|
0.820 | 0.833 | 6 | 2012 | 2019 | |||||||||
|
0.925 | 0.120 | 21 | 44289270 | non coding transcript exon variant | G/A | snv | 0.19 |
|
0.860 | 0.833 | 6 | 2011 | 2019 | ||||||||
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.060 | 0.667 | 6 | 2008 | 2019 | |||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.060 | 0.833 | 6 | 1998 | 2017 | ||||||||
|
0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 |
|
0.060 | 0.833 | 6 | 2015 | 2020 | ||||||||
|
0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 |
|
0.060 | 0.833 | 6 | 2004 | 2013 | ||||||||
|
0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv |
|
0.820 | 1.000 | 6 | 2007 | 2018 | |||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.060 | 0.500 | 6 | 2010 | 2019 | |||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
0.060 | 1.000 | 6 | 2010 | 2020 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.050 | 1.000 | 5 | 2006 | 2019 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.050 | 0.800 | 5 | 2008 | 2018 | ||||||||
|
0.925 | 0.120 | 1 | 198731313 | intron variant | G/A | snv | 0.21 |
|
0.740 | 1.000 | 5 | 2010 | 2016 | ||||||||
|
0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 |
|
0.050 | 1.000 | 5 | 2009 | 2020 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.050 | 1.000 | 5 | 2010 | 2018 | |||||||
|
0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 |
|
0.050 | 0.600 | 5 | 2014 | 2019 | |||||||
|
0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 |
|
0.830 | 1.000 | 5 | 2012 | 2015 | ||||||||
|
0.925 | 0.160 | 5 | 103261019 | intron variant | C/T | snv | 0.30 |
|
0.830 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.790 | 0.200 | 9 | 34710263 | intron variant | G/A;C | snv |
|
0.820 | 1.000 | 5 | 2008 | 2017 | |||||||||
|
0.827 | 0.280 | 9 | 120944104 | regulatory region variant | T/A;C | snv |
|
0.830 | 1.000 | 5 | 2007 | 2019 | |||||||||
|
0.776 | 0.320 | 8 | 118952749 | upstream gene variant | A/C | snv | 9.6E-02 |
|
0.050 | 0.800 | 5 | 2014 | 2019 | ||||||||
|
0.882 | 0.160 | 6 | 137874014 | intron variant | G/T | snv | 0.13 |
|
0.740 | 1.000 | 5 | 2009 | 2017 | ||||||||
|
0.790 | 0.320 | 6 | 32315077 | intron variant | A/G | snv | 0.14 |
|
0.810 | 1.000 | 5 | 2007 | 2016 |