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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 4 | 87852697 | regulatory region variant | T/G | snv | 0.66 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
1.000 | 0.080 | 15 | 51245609 | intron variant | T/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
8 | 119000461 | intron variant | C/G | snv | 0.65 |
|
0.800 | 1.000 | 2 | 2009 | 2018 | ||||||||||
|
1 | 172323065 | intron variant | T/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 46827809 | intron variant | G/A | snv | 0.64 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 233394759 | intron variant | A/G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 2055315 | intron variant | T/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 106909000 | upstream gene variant | T/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 43729963 | intergenic variant | T/C | snv | 0.63 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
12 | 106904084 | upstream gene variant | A/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 121190161 | intron variant | A/G | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 30930127 | intron variant | C/T | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 96504559 | intron variant | C/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 119001037 | intron variant | C/T | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2009 | 2014 | ||||||||||
|
1.000 | 0.080 | 8 | 119039999 | intron variant | T/C | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2008 | 2009 | ||||||||
|
11 | 27286936 | intergenic variant | G/C | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 50952397 | intergenic variant | G/A | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.120 | 17 | 45727828 | intron variant | T/C;G | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 8 | 119051303 | intron variant | T/C | snv | 0.59 |
|
0.800 | 1.000 | 1 | 2009 | 2014 | ||||||||
|
13 | 42391558 | intron variant | C/T | snv | 0.59 |
|
0.700 | 1.000 | 2 | 2013 | 2018 | ||||||||||
|
1 | 68191827 | intron variant | T/C | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2009 | 2014 | ||||||||||
|
0.882 | 0.160 | 6 | 151612040 | intron variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
5 | 88992524 | intron variant | G/A;T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 66620428 | intron variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 89080244 | intron variant | A/C | snv | 0.57 |
|
0.800 | 1.000 | 3 | 2009 | 2018 |