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 | 0.840 | 1.000 | 35 | 1989 | 2017 | ||||
|
8 | 0.807 | 0.200 | 19 | 11113743 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.810 | 1.000 | 32 | 1989 | 2017 | ||||
|
2 | 0.925 | 0.080 | 19 | 11113359 | missense variant | T/C | snv | 0.810 | 1.000 | 32 | 1989 | 2017 | |||||
|
4 | 0.882 | 0.160 | 19 | 11113338 | missense variant | G/A;C;T | snv | 1.6E-05 | 0.810 | 1.000 | 12 | 2004 | 2018 | ||||
|
7 | 0.827 | 0.200 | 19 | 11113337 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.800 | 1.000 | 38 | 1989 | 2017 | |||
|
4 | 0.925 | 0.080 | 19 | 11113620 | missense variant | G/A;C;T | snv | 4.0E-05 | 0.800 | 1.000 | 34 | 1989 | 2017 | ||||
|
2 | 0.925 | 0.080 | 19 | 11113388 | missense variant | G/C;T | snv | 0.800 | 1.000 | 31 | 1989 | 2017 | |||||
|
5 | 0.882 | 0.080 | 19 | 11113307 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.800 | 1.000 | 31 | 1989 | 2017 | ||||
|
4 | 0.925 | 0.080 | 19 | 11113382 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.800 | 1.000 | 31 | 1989 | 2017 | ||||
|
4 | 0.925 | 0.080 | 19 | 11111555 | missense variant | T/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 31 | 1989 | 2017 | ||||
|
4 | 0.925 | 0.080 | 19 | 11111571 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 31 | 1989 | 2017 | |||||
|
2 | 0.925 | 0.080 | 19 | 11113443 | missense variant | T/C | snv | 0.800 | 1.000 | 31 | 1989 | 2017 | |||||
|
5 | 0.882 | 0.080 | 19 | 11113612 | missense variant | T/C | snv | 0.800 | 1.000 | 31 | 1989 | 2017 | |||||
|
3 | 0.882 | 0.080 | 19 | 11113292 | missense variant | C/G;T | snv | 8.0E-06; 4.0E-06 | 0.800 | 1.000 | 20 | 1989 | 2012 | ||||
|
5 | 0.882 | 0.160 | 19 | 11113650 | missense variant | G/A;C | snv | 2.4E-05; 4.0E-06 | 0.800 | 1.000 | 20 | 1989 | 2012 | ||||
|
5 | 0.882 | 0.080 | 19 | 11113752 | missense variant | C/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 11 | 2004 | 2017 | ||||
|
4 | 0.925 | 0.080 | 19 | 11113392 | missense variant | C/A;G;T | snv | 4.0E-06; 8.0E-06 | 0.800 | 1.000 | 11 | 2004 | 2017 | ||||
|
2 | 0.925 | 0.080 | 19 | 11113332 | missense variant | T/G | snv | 8.0E-06 | 0.800 | 1.000 | 11 | 2004 | 2017 | ||||
|
4 | 0.882 | 0.160 | 19 | 11111519 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.800 | 1.000 | 11 | 2004 | 2017 | ||||
|
4 | 0.925 | 0.080 | 19 | 11111556 | missense variant | G/A;C | snv | 1.2E-05 | 0.800 | 1.000 | 11 | 2004 | 2017 | ||||
|
3 | 0.882 | 0.080 | 19 | 11111526 | missense variant | G/A | snv | 0.800 | 1.000 | 11 | 2004 | 2017 | |||||
|
6 | 0.851 | 0.120 | 19 | 11113313 | missense variant | G/A;C | snv | 8.0E-06 | 0.800 | 0 | |||||||
|
2 | 0.925 | 0.080 | 19 | 11111550 | missense variant | A/C;G | snv | 2.4E-05 | 0.710 | 1.000 | 32 | 1989 | 2017 | ||||
|
3 | 0.882 | 0.080 | 19 | 11113293 | missense variant | T/A | snv | 0.710 | 1.000 | 1 | 1995 | 1995 | |||||
|
3 | 0.882 | 0.080 | 19 | 11113625 | stop gained | G/A;C;T | snv | 0.710 | < 0.001 | 1 | 2019 | 2019 |