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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2006 | 2014 | ||||
|
28 | 0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
24 | 0.689 | 0.440 | 17 | 7674954 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
15 | 0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
3 | 17 | 7675199 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 1993 | 1993 | |||||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.933 | 45 | 2002 | 2019 | ||||
|
2 | 17 | 7673598 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1993 | 1993 | ||||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.100 | 0.923 | 39 | 2002 | 2019 | |||||
|
19 | 0.724 | 0.320 | 17 | 7674948 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
15 | 0.752 | 0.240 | 17 | 7674892 | synonymous variant | T/A;C | snv | 1.3E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 17 | 7675204 | missense variant | T/A;C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
6 | 17 | 7675109 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
37 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.030 | 1.000 | 3 | 2013 | 2016 |