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 | 0.100 | 0.833 | 12 | 2006 | 2019 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.900 | 10 | 2006 | 2017 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.100 | 0.900 | 10 | 2006 | 2017 | |||||
|
8 | 0.851 | 0.320 | 17 | 7675146 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.030 | 1.000 | 3 | 2008 | 2016 | |||
|
21 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2016 | ||||
|
6 | 0.851 | 0.160 | 17 | 7673752 | missense variant | G/A;C | snv | 1.2E-05 | 4.2E-05 | 0.020 | 1.000 | 2 | 2010 | 2018 | |||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 17 | 7675152 | missense variant | C/G;T | snv | 4.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 17 | 7675172 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 17 | 7669624 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
37 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 |