| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2003 | 2012 | ||||||||
|
8 | 10147444 | intron variant | T/C | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 102312653 | intron variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.120 | 4 | 102609955 | intron variant | A/G | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
7 | 103508155 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
12 | 103567986 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 10528857 | intergenic variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 105570896 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 105578477 | intron variant | C/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 105578478 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||||
|
7 | 10580010 | intron variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
7 | 105862160 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 10630195 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 |
|
0.720 | 0.750 | 4 | 2015 | 2020 | |||||||
|
0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv |
|
0.710 | 1.000 | 2 | 2016 | 2016 | |||||||||
|
19 | 10732057 | intron variant | C/G | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 19 | 11105249 | missense variant | C/T | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.200 | 5 | 112828920 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 1995 | 2003 | |||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
4 | 112933404 | intron variant | T/A;G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 113133145 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1 | 114120337 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |