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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 17 | 7675070 | missense variant | C/A;T | snv | 1.2E-05 | 0.800 | 1.000 | 26 | 1990 | 2016 | ||||
|
2 | 0.925 | 0.120 | 17 | 7670678 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 1990 | 2017 | |||||
|
2 | 0.925 | 0.120 | 17 | 7673745 | missense variant | T/A;C | snv | 0.710 | 1.000 | 19 | 1990 | 2017 | |||||
|
2 | 0.925 | 0.120 | 17 | 7674208 | missense variant | A/G | snv | 0.700 | 1.000 | 18 | 1990 | 2017 | |||||
|
3 | 0.925 | 0.120 | 17 | 7675214 | start lost | A/G | snv | 0.700 | 1.000 | 18 | 1990 | 2017 | |||||
|
2 | 1.000 | 0.120 | 17 | 7673820 | missense variant | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 18 | 1990 | 2017 | ||||
|
2 | 1.000 | 0.120 | 17 | 7673773 | missense variant | G/A;C;T | snv | 7.2E-05; 4.0E-06 | 0.700 | 1.000 | 11 | 1990 | 2014 | ||||
|
2 | 1.000 | 0.120 | 17 | 7674193 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
2 | 0.925 | 0.120 | 17 | 7675200 | missense variant | C/G | snv | 0.800 | 1.000 | 11 | 1990 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 7676124 | missense variant | G/A;C | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 11 | 1990 | 2014 | |||
|
2 | 1.000 | 0.120 | 17 | 7675994 | splice region variant | C/A;G;T | snv | 0.700 | 1.000 | 11 | 1992 | 2016 | |||||
|
2 | 1.000 | 0.120 | 17 | 7675148 | missense variant | G/C;T | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
2 | 1.000 | 0.120 | 17 | 7674942 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 7674210 | missense variant | G/A;C | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
2 | 1.000 | 0.120 | 17 | 7674259 | missense variant | T/A;C | snv | 4.0E-06; 1.8E-04 | 0.710 | 1.000 | 10 | 1990 | 2017 | ||||
|
4 | 1.000 | 0.120 | 17 | 7673767 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2015 | ||||
|
2 | 1.000 | 0.120 | 17 | 7675080 | missense variant | G/C;T | snv | 0.700 | 1.000 | 6 | 2003 | 2018 | |||||
|
1 | 1.000 | 0.120 | 17 | 7674957 | stop gained | G/A | snv | 0.700 | 1.000 | 6 | 2010 | 2016 | |||||
|
1 | 1.000 | 0.120 | 17 | 7674857 | splice donor variant | A/T | snv | 0.700 | 1.000 | 4 | 2003 | 2013 | |||||
|
1 | 1.000 | 0.120 | 17 | 7675138 | missense variant | GC/AA | mnv | 0.700 | 1.000 | 4 | 2003 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 7670649 | stop gained | G/A;T | snv | 2.0E-05 | 0.700 | 1.000 | 4 | 2010 | 2015 | ||||
|
2 | 0.925 | 0.120 | 17 | 7670694 | stop gained | C/A;G;T | snv | 8.0E-06; 6.4E-05 | 0.700 | 1.000 | 3 | 1998 | 2016 | ||||
|
2 | 1.000 | 0.120 | 17 | 7669692 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
2 | 1.000 | 0.120 | 17 | 7673535 | missense variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2018 | |||||
|
1 | 1.000 | 0.120 | 17 | 7675992 | splice region variant | -/C | delins | 0.700 | 1.000 | 2 | 2007 | 2010 |