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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.070 | 1.000 | 7 | 2003 | 2017 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.070 | 1.000 | 7 | 2003 | 2017 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.070 | 1.000 | 7 | 2003 | 2017 | |||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
37 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
34 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 17 | 7676049 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
37 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
28 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |