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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 2 | 164155317 | intron variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2018 | 2018 | |||||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||
|
10 | 0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2016 | 2018 | |||||
|
10 | 0.925 | 0.080 | 11 | 100722807 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2011 | 2018 | |||||
|
6 | 4 | 80237391 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
7 | 0.882 | 0.120 | 15 | 90873320 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||
|
6 | 1.000 | 0.080 | 7 | 27202041 | non coding transcript exon variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
10 | 0.925 | 0.080 | 15 | 90894158 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2018 | |||||
|
3 | 3 | 27551369 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
2 | 10 | 102712218 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||||
|
4 | 22 | 28856744 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
4 | 8 | 142914947 | intron variant | A/C;G | snv | 0.42 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
24 | 12 | 111280427 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 12 | 112229871 | missense variant | T/C;G | snv | 4.1E-06; 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 5 | 32832368 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 3 | 47916547 | missense variant | G/A;T | snv | 4.0E-06; 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 11 | 16235171 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 10 | 59620724 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 15 | 74942269 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
8 | 0.925 | 0.120 | 4 | 80248758 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 11 | 1873813 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 15 | 75090201 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 10 | 18439030 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 12 | 20020830 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 2 | 26688641 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |