| 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 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||
|
0.882 | 0.080 | 7 | 44196069 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||
|
0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||
|
0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 |
|
0.800 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
1.000 | 0.080 | 10 | 111282335 | intergenic variant | T/G | snv | 0.71 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
11 | 47325172 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
1.000 | 0.080 | 8 | 117173494 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 72721940 | 5 prime UTR variant | G/A | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 11 | 45851540 | intron variant | A/C | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
13 | 27913462 | intron variant | A/G | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||||
|
0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
1.000 | 0.040 | 3 | 170999732 | intron variant | T/A | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||
|
2 | 26930006 | intron variant | C/T | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 11 | 48311808 | downstream gene variant | G/A | snv | 9.7E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.925 | 0.160 | 20 | 41203988 | missense variant | T/C | snv | 0.14 | 0.14 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | |||||||
|
0.925 | 0.160 | 11 | 61804006 | 5 prime UTR variant | T/C | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
1.000 | 0.080 | 7 | 44189469 | intron variant | C/T | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 92958366 | intergenic variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2019 | |||||||||
|
1.000 | 0.080 | 7 | 15024684 | intergenic variant | G/T | snv | 0.54 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
7 | 44149675 | intron variant | T/C | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
8 | 40626720 | intron variant | T/C | snv | 0.78 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
3 | 123375604 | intron variant | T/C | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2012 | 2012 |