| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 82800066 | intergenic variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
10 | 100101678 | downstream gene variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.851 | 0.160 | 22 | 43936690 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.800 | 1.000 | 3 | 2011 | 2018 | |||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.700 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
1.000 | 22 | 43930116 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
1.000 | 0.040 | 10 | 100035604 | regulatory region variant | T/A;G | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
3 | 120706484 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
5 | 85922051 | intergenic variant | T/C | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 204118831 | intergenic variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 183389270 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 355870 | intron variant | A/G | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 16636871 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
2 | 149707970 | intron variant | C/T | snv | 8.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 76433779 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 2 | 118661291 | regulatory region variant | A/G | snv | 1.1E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 22 | 31829377 | intron variant | C/A | snv | 6.6E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 2 | 11641492 | 3 prime UTR variant | T/C | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |