| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 8 | 102296172 | intron variant | A/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 13 | 20476436 | intron variant | A/C | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv |
|
0.100 | 0.955 | 22 | 1997 | 2020 | |||||||||
|
0.882 | 0.120 | 19 | 1063444 | intron variant | A/C;G | snv |
|
0.860 | 1.000 | 6 | 2013 | 2019 | |||||||||
|
0.851 | 0.080 | 9 | 83666280 | intron variant | A/C;G | snv |
|
0.030 | 0.667 | 3 | 2007 | 2015 | |||||||||
|
1.000 | 0.080 | 2 | 169363371 | upstream gene variant | A/C;G | snv |
|
0.030 | 1.000 | 3 | 2010 | 2014 | |||||||||
|
0.851 | 0.120 | 9 | 137018032 | missense variant | A/C;G | snv | 0.97 | 0.96 |
|
0.030 | 1.000 | 3 | 2005 | 2013 | |||||||
|
0.925 | 0.080 | 7 | 100374211 | missense variant | A/C;G | snv | 4.0E-06; 0.65 |
|
0.720 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 99880120 | missense variant | A/C;G | snv | 0.34; 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 21 | 25891849 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.200 | 7 | 87504324 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 10 | 92575021 | upstream gene variant | A/C;G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | X | 38351716 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 22 | 41822852 | intron variant | A/C;G | snv |
|
0.710 | 1.000 | 1 | 2011 | 2019 | |||||||||
|
0.925 | 0.080 | 17 | 46028029 | 3 prime UTR variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 16 | 1324523 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.050 | 0.800 | 5 | 2008 | 2012 | ||||||||
|
0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv |
|
0.100 | 1.000 | 10 | 2001 | 2017 | |||||||||
|
0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 14 | 75135034 | intron variant | A/C;G;T | snv | 1.6E-05; 0.52; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.080 | 10 | 58388932 | intron variant | A/C;G;T | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 15 | 78437910 | intron variant | A/C;G;T | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 9 | 120402006 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 |