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 | 0.867 | 15 | 2005 | 2017 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.857 | 14 | 2005 | 2017 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.100 | 0.857 | 14 | 2005 | 2017 | |||||
|
36 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.710 | < 0.001 | 1 | 2017 | 2017 | ||||
|
28 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.800 | 1.000 | 22 | 1994 | 2020 | |||||
|
25 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
19 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 0.720 | 1.000 | 2 | 2011 | 2011 | ||||
|
13 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.710 | 1.000 | 1 | 2016 | 2019 | ||||
|
11 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.710 | 1.000 | 1 | 2012 | 2016 | ||||
|
9 | 0.790 | 0.240 | 17 | 7676240 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.200 | 17 | 7673608 | missense variant | G/A;C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
5 | 0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv | 0.710 | 0.500 | 1 | 2009 | 2016 | |||||
|
5 | 0.882 | 0.120 | 17 | 7675187 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 17 | 7674239 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2004 | 2016 |