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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.320 | 8 | 38417962 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.160 | 8 | 38414254 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 10 | 101770613 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.160 | 13 | 110512039 | missense variant | G/A;C | snv | 5.0E-04 | 0.700 | 0 | |||||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.040 | 1.000 | 4 | 2008 | 2018 | |||
|
7 | 0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.240 | 8 | 38426158 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
7 | 0.827 | 0.240 | 8 | 38414569 | stop gained | G/A | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.040 | 9 | 135548199 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.240 | 8 | 38414173 | missense variant | G/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
5 | 0.851 | 0.240 | 8 | 38414166 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.080 | 4 | 89813384 | intron variant | T/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 |