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 | 0.925 | 0.120 | 15 | 42410926 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 0.810 | 1.000 | 7 | 1995 | 2017 | ||||
|
1 | 0.925 | 0.120 | 15 | 42401755 | missense variant | G/A;C | snv | 6.8E-05; 4.0E-06 | 0.800 | 1.000 | 22 | 1995 | 2017 | ||||
|
2 | 0.925 | 0.120 | 15 | 42401754 | missense variant | C/T | snv | 4.0E-06; 8.4E-05 | 1.5E-04 | 0.800 | 1.000 | 20 | 1995 | 2017 | |||
|
1 | 1.000 | 0.120 | 15 | 42410646 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 0.800 | 1.000 | 18 | 1995 | 2017 | |||
|
1 | 1.000 | 0.120 | 15 | 42399640 | missense variant | C/G;T | snv | 1.7E-05; 4.2E-06 | 0.800 | 1.000 | 14 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.120 | 15 | 42402972 | missense variant | G/A;C;T | snv | 8.0E-06; 4.0E-06 | 0.800 | 1.000 | 11 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.120 | 15 | 42411299 | missense variant | C/A | snv | 8.0E-05 | 1.7E-04 | 0.800 | 1.000 | 10 | 1995 | 2017 | |||
|
1 | 1.000 | 0.120 | 15 | 42401721 | missense variant | A/G | snv | 5.6E-05 | 6.3E-05 | 0.800 | 1.000 | 9 | 1995 | 2017 | |||
|
1 | 1.000 | 0.120 | 15 | 42399631 | missense variant | G/A;C | snv | 1.2E-05; 4.2E-06 | 0.800 | 1.000 | 9 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.120 | 15 | 42394287 | missense variant | T/G | snv | 0.800 | 1.000 | 7 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.120 | 15 | 42399641 | missense variant | G/A;T | snv | 1.3E-05 | 0.800 | 1.000 | 7 | 1999 | 2014 | ||||
|
1 | 1.000 | 0.120 | 15 | 42392649 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.800 | 1.000 | 6 | 1997 | 2008 | |||
|
1 | 1.000 | 0.120 | 15 | 42401763 | missense variant | C/G;T | snv | 8.0E-06; 2.8E-05 | 0.800 | 1.000 | 5 | 1995 | 2017 | ||||
|
4 | 0.882 | 0.240 | 15 | 42399616 | missense variant | C/T | snv | 4.0E-06; 2.4E-05 | 7.0E-06 | 0.800 | 1.000 | 5 | 1995 | 2017 | |||
|
1 | 1.000 | 0.120 | 15 | 42388996 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.120 | 15 | 42410633 | missense variant | A/G | snv | 8.0E-06 | 0.800 | 1.000 | 4 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.120 | 15 | 42388935 | missense variant | G/A | snv | 8.7E-05 | 4.2E-05 | 0.800 | 1.000 | 3 | 1995 | 2017 | |||
|
1 | 1.000 | 0.120 | 15 | 42387820 | missense variant | T/C | snv | 1.6E-05 | 2.1E-05 | 0.800 | 1.000 | 3 | 1995 | 2017 | |||
|
1 | 1.000 | 0.120 | 15 | 42402879 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.800 | 1.000 | 2 | 1995 | 2017 | |||
|
1 | 1.000 | 0.120 | 15 | 42399607 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 0.800 | 1.000 | 2 | 1995 | 2017 | |||
|
1 | 1.000 | 0.120 | 15 | 42360050 | missense variant | C/T | snv | 8.0E-06 | 4.2E-05 | 0.710 | 0.917 | 12 | 2002 | 2017 | |||
|
2 | 0.925 | 0.120 | 15 | 42408227 | missense variant | C/T | snv | 4.4E-05 | 3.5E-05 | 0.710 | 1.000 | 7 | 1997 | 2014 | |||
|
21 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 0.700 | 1.000 | 15 | 1995 | 2016 | |||||
|
1 | 1.000 | 0.120 | 15 | 42402971 | missense variant | C/G;T | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 14 | 1995 | 2017 | |||
|
1 | 1.000 | 0.120 | 15 | 42389051 | inframe deletion | GAA/- | delins | 0.700 | 1.000 | 13 | 1999 | 2017 |