| 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 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
1 | 230169242 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
12 | 124799220 | intron variant | C/T | snv | 0.63 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
6 | 160668785 | intron variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||||
|
16 | 67943479 | 5 prime UTR variant | T/C | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||||
|
9 | 104884738 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
11 | 116857914 | missense variant | G/A;C;T | snv | 1.2E-05; 0.19; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 67674994 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
3 | 132444356 | intron variant | G/T | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2012 | |||||||||
|
1.000 | 0.080 | 11 | 61837342 | intron variant | C/A | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.925 | 0.080 | 11 | 61855668 | non coding transcript exon variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||
|
8 | 19994534 | regulatory region variant | T/A | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
1.000 | 0.040 | 16 | 56983750 | 3 prime UTR variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.925 | 0.120 | 16 | 67951803 | intron variant | C/A;T | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.120 | 3 | 11358775 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
15 | 58450219 | intron variant | G/A | snv | 0.81 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
1.000 | 0.040 | 6 | 34585020 | downstream gene variant | G/A | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
8 | 125479491 | intron variant | G/T | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
8 | 125469505 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||||
|
1.000 | 0.040 | 9 | 104884939 | intron variant | C/T | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 9 | 15289580 | intron variant | C/T | snv | 0.87 |
|
0.800 | 1.000 | 1 | 2009 | 2009 |