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 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.020 | 1.000 | 2 | 2013 | 2019 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.160 | 2 | 88588014 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
13 | 0.752 | 0.160 | 5 | 173235021 | synonymous variant | T/C | snv | 0.41 | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.120 | 8 | 11708019 | 5 prime UTR variant | G/T | snv | 5.9E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.120 | 8 | 11708411 | missense variant | G/T | snv | 3.6E-03 | 2.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.925 | 0.120 | 12 | 114355808 | synonymous variant | G/A | snv | 4.4E-03 | 1.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 6 | 50823507 | missense variant | C/G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
4 | 0.851 | 0.160 | 10 | 88939548 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |