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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 |
|
0.100 | 0.667 | 15 | 2007 | 2015 | ||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.100 | 0.933 | 15 | 1997 | 2017 | |||||||
|
0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv |
|
0.900 | 0.958 | 15 | 2007 | 2019 | |||||||||
|
0.882 | 0.160 | 10 | 92722160 | intergenic variant | G/A;T | snv |
|
0.800 | 0.941 | 15 | 2007 | 2019 | |||||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.100 | 1.000 | 14 | 2009 | 2019 | |||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.100 | 0.923 | 13 | 2009 | 2019 | |||||||||
|
0.851 | 0.160 | 17 | 81809839 | missense variant | G/A | snv | 7.4E-03 | 6.3E-03 |
|
0.100 | 0.538 | 13 | 1995 | 2005 | |||||||
|
0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv |
|
0.800 | 0.917 | 12 | 2006 | 2020 | |||||||||
|
0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 |
|
0.800 | 0.917 | 12 | 2000 | 2011 | ||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.100 | 0.833 | 12 | 2001 | 2016 | |||||||
|
0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 |
|
0.100 | 1.000 | 12 | 2000 | 2017 | ||||||||
|
0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 |
|
0.100 | 1.000 | 12 | 2001 | 2016 | |||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.100 | 1.000 | 12 | 1996 | 2019 | |||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.900 | 1.000 | 12 | 2007 | 2018 | ||||||||
|
0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 |
|
0.100 | 1.000 | 11 | 2000 | 2017 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.100 | 0.818 | 11 | 2001 | 2016 | |||||||
|
0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 |
|
0.100 | 0.909 | 11 | 2007 | 2017 | |||||||
|
0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 |
|
0.900 | 0.923 | 11 | 2009 | 2018 | ||||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
0.100 | 0.800 | 10 | 2009 | 2019 | ||||||||
|
0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 |
|
0.900 | 1.000 | 10 | 2007 | 2019 | ||||||||
|
0.925 | 0.160 | 10 | 113080735 | intron variant | G/A | snv | 0.25 |
|
0.100 | 0.700 | 10 | 2007 | 2015 | ||||||||
|
0.851 | 0.120 | 20 | 44357077 | intron variant | G/A | snv | 0.18 |
|
0.100 | 1.000 | 10 | 2006 | 2019 | ||||||||
|
0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 |
|
0.900 | 0.941 | 10 | 2007 | 2019 | ||||||||
|
0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 |
|
0.100 | 0.700 | 10 | 1998 | 2018 | |||||||
|
0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 |
|
0.090 | 1.000 | 9 | 2011 | 2015 |