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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 6 | 49441858 | missense variant | A/C | snv | 0.700 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49451642 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49458023 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49459207 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49451690 | missense variant | T/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 20 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49459186 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49451707 | missense variant | T/C;G | snv | 4.0E-05 | 1.4E-05 | 0.700 | 1.000 | 20 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49431813 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 49444712 | missense variant | C/G | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 49451636 | missense variant | T/C;G | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 49440219 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 49440291 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 49451522 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49453721 | missense variant | T/C | snv | 2.8E-05 | 5.6E-05 | 0.700 | 1.000 | 20 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49440253 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 20 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49440244 | missense variant | C/A;G | snv | 0.700 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49451692 | missense variant | C/T | snv | 6.8E-05 | 5.6E-05 | 0.700 | 1.000 | 10 | 1997 | 2016 | |||
|
2 | 1.000 | 0.080 | 6 | 49457872 | missense variant | G/T | snv | 3.2E-05 | 4.2E-05 | 0.700 | 1.000 | 8 | 2005 | 2016 | |||
|
4 | 0.882 | 0.200 | 6 | 49451591 | stop gained | G/A;C | snv | 4.0E-05; 2.4E-05 | 0.700 | 1.000 | 7 | 2002 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 49431802 | stop gained | G/A | snv | 3.2E-05 | 1.4E-05 | 0.700 | 1.000 | 7 | 2006 | 2016 | |||
|
1 | 1.000 | 0.080 | 6 | 49457762 | stop gained | G/A | snv | 6.4E-05 | 2.8E-05 | 0.700 | 1.000 | 6 | 2005 | 2016 | |||
|
1 | 1.000 | 0.080 | 6 | 49441972 | splice acceptor variant | C/G;T | snv | 2.8E-05 | 7.0E-06 | 0.700 | 1.000 | 6 | 2005 | 2015 | |||
|
1 | 1.000 | 0.080 | 6 | 49440238 | missense variant | C/G | snv | 2.0E-05 | 5.6E-05 | 0.700 | 1.000 | 5 | 2005 | 2016 | |||
|
1 | 1.000 | 0.080 | 6 | 49453628 | inframe deletion | AGA/- | delins | 7.0E-06 | 0.700 | 1.000 | 5 | 1998 | 2016 | ||||
|
2 | 1.000 | 0.080 | 6 | 49448861 | stop gained | G/A | snv | 6.8E-05 | 2.8E-05 | 0.700 | 1.000 | 5 | 2002 | 2012 |