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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.080 | 19 | 11113376 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.760 | 1.000 | 22 | 1989 | 2016 | ||||
|
3 | 0.882 | 0.080 | 19 | 11110723 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 20 | 1994 | 2016 | |||||
|
6 | 0.851 | 0.080 | 19 | 11102774 | stop gained | G/A;T | snv | 1.6E-05 | 0.710 | 1.000 | 19 | 1992 | 2015 | ||||
|
5 | 0.882 | 0.080 | 19 | 11110738 | missense variant | G/A;T | snv | 2.8E-05 | 0.700 | 1.000 | 19 | 1992 | 2016 | ||||
|
4 | 0.925 | 0.080 | 19 | 11102741 | missense variant | G/A;T | snv | 5.6E-05 | 0.700 | 1.000 | 18 | 1992 | 2017 | ||||
|
5 | 0.882 | 0.080 | 19 | 11102787 | splice donor variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 17 | 1994 | 2015 | ||||
|
5 | 0.882 | 0.080 | 19 | 11105496 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1992 | 2019 | ||||
|
3 | 0.925 | 0.080 | 19 | 11105567 | missense variant | G/A;T | snv | 0.710 | 1.000 | 17 | 1991 | 2015 | |||||
|
6 | 0.851 | 0.080 | 19 | 11105587 | missense variant | C/A;G;T | snv | 8.1E-06; 8.1E-05 | 0.710 | 1.000 | 16 | 1989 | 2016 | ||||
|
4 | 0.925 | 0.080 | 19 | 11113620 | missense variant | G/A;C;T | snv | 4.0E-05 | 0.700 | 1.000 | 16 | 1995 | 2016 | ||||
|
5 | 0.882 | 0.080 | 19 | 11116153 | missense variant | G/A;T | snv | 2.4E-05 | 0.710 | 1.000 | 16 | 1990 | 2015 | ||||
|
4 | 0.925 | 0.080 | 19 | 11120382 | missense variant | G/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 16 | 1990 | 2016 | ||||
|
5 | 0.851 | 0.080 | 19 | 11110759 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 16 | 1994 | 2015 | ||||
|
5 | 0.882 | 0.080 | 19 | 11105457 | missense variant | G/A;C | snv | 0.700 | 1.000 | 15 | 1994 | 2015 | |||||
|
5 | 0.882 | 0.080 | 19 | 11113307 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 15 | 1996 | 2016 | ||||
|
6 | 0.851 | 0.080 | 19 | 11113534 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 15 | 1995 | 2016 | |||||
|
5 | 0.882 | 0.080 | 19 | 11113608 | missense variant | G/A;T | snv | 2.8E-05 | 2.8E-05 | 0.700 | 1.000 | 15 | 1992 | 2017 | |||
|
4 | 0.925 | 0.080 | 19 | 11113382 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 15 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 19 | 11102757 | missense variant | G/A;T | snv | 0.700 | 1.000 | 15 | 1994 | 2018 | |||||
|
5 | 0.882 | 0.080 | 19 | 11116900 | missense variant | C/G;T | snv | 4.0E-06; 1.1E-04 | 0.700 | 1.000 | 14 | 1994 | 2019 | ||||
|
5 | 0.882 | 0.080 | 19 | 11120143 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 14 | 1997 | 2013 | |||
|
5 | 0.882 | 0.080 | 19 | 11102742 | missense variant | A/C;G | snv | 0.700 | 1.000 | 14 | 1992 | 2017 | |||||
|
1 | 1.000 | 0.080 | 19 | 11111543 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 14 | 1973 | 2017 | ||||
|
4 | 0.925 | 0.080 | 19 | 11107432 | missense variant | C/A;T | snv | 2.8E-05; 3.7E-04 | 0.720 | 1.000 | 13 | 1992 | 2016 | ||||
|
4 | 0.925 | 0.080 | 19 | 11111556 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 13 | 1973 | 2015 |