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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 16 | 68811697 | missense variant | G/A;T | snv | 7.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 16 | 68829687 | missense variant | G/A | snv | 1.2E-04 | 1.5E-04 | 0.700 | 0 | ||||||
|
7 | 0.807 | 0.400 | 16 | 68813322 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 16 | 68815697 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.400 | 16 | 68801726 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 16 | 68834619 | 3 prime UTR variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
3 | 0.882 | 0.120 | 16 | 68750684 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
19 | 0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 16 | 68796608 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.120 | 16 | 68784487 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 16 | 68744554 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 16 | 68815678 | missense variant | T/C | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 |