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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.240 | 6 | 123540174 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.807 | 0.240 | 8 | 35265058 | intron variant | C/T | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.240 | 6 | 36026129 | upstream gene variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.240 | 4 | 53790270 | intron variant | G/A | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.240 | 6 | 36030611 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.776 | 0.320 | 8 | 118952749 | upstream gene variant | A/C | snv | 9.6E-02 | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||
|
3 | 0.925 | 0.200 | 12 | 12718066 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
13 | 0.724 | 0.480 | 10 | 67883321 | upstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.776 | 0.360 | 8 | 118952044 | upstream gene variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
19 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
11 | 0.742 | 0.480 | 10 | 67883584 | upstream gene variant | T/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.763 | 0.240 | 1 | 115286692 | missense variant | G/A | snv | 0.37 | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 |