Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.827 | 0.240 | 12 | 49853685 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 12 | 2009 | 2019 | |||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 11 | 2010 | 2019 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.800 | 1.000 | 9 | 2012 | 2019 | |||||
|
2 | 5 | 124994829 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 7 | 2015 | 2019 | |||||||
|
4 | 6 | 40380914 | intron variant | A/C;G | snv | 0.700 | 1.000 | 6 | 2015 | 2019 | |||||||
|
4 | 0.925 | 0.080 | 11 | 115151684 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 5 | 2015 | 2019 | |||||
|
9 | 0.925 | 0.120 | 18 | 63178651 | intron variant | T/A;C | snv | 0.700 | 1.000 | 5 | 2016 | 2019 | |||||
|
7 | 1.000 | 0.080 | 4 | 45173674 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 5 | 2013 | 2019 | |||||
|
1 | 9 | 15634328 | intron variant | T/A;C | snv | 0.700 | 1.000 | 5 | 2015 | 2019 | |||||||
|
2 | 2 | 59078490 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 4 | 2015 | 2019 | |||||||
|
1 | 9 | 126698635 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 4 | 2015 | 2019 | |||||||
|
3 | 2 | 6015425 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 4 | 2015 | 2019 | |||||||
|
3 | 5 | 123321505 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||||
|
5 | 20 | 6632185 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 4 | 2015 | 2019 | |||||||
|
8 | 1.000 | 0.040 | 4 | 25407216 | missense variant | G/A;T | snv | 0.15; 4.1E-06 | 0.700 | 1.000 | 4 | 2018 | 2019 | ||||
|
2 | 7 | 95540202 | 3 prime UTR variant | G/A;T | snv | 0.700 | 1.000 | 4 | 2015 | 2018 | |||||||
|
3 | 15 | 72801650 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2015 | 2018 | |||||||
|
9 | 0.925 | 0.120 | 16 | 28871920 | missense variant | A/G;T | snv | 0.35 | 0.700 | 1.000 | 4 | 2009 | 2019 | ||||
|
2 | 1.000 | 0.040 | 3 | 49934081 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 4 | 2015 | 2018 | |||||
|
1 | 12 | 16988648 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2017 | 2019 | |||||||
|
1 | 10 | 116913020 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||||
|
1 | 12 | 41554394 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2008 | 2019 | |||||
|
2 | 13 | 27443645 | intron variant | C/T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||||
|
4 | 1.000 | 0.080 | 2 | 629244 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 3 | 2013 | 2019 |