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 | 0.120 | 19 | 12897743 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 12897787 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 12897764 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.120 | 19 | 12897734 | missense variant | A/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 12897825 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 16 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.120 | 19 | 12897767 | missense variant | C/T | snv | 1.6E-05 | 7.0E-05 | 0.800 | 1.000 | 15 | 1995 | 2014 | |||
|
1 | 1.000 | 0.120 | 19 | 12899486 | missense variant | C/T | snv | 1.2E-04 | 2.7E-04 | 0.810 | 1.000 | 14 | 1991 | 2017 | |||
|
1 | 1.000 | 0.120 | 19 | 12897824 | missense variant | C/T | snv | 3.2E-04 | 1.9E-04 | 0.810 | 1.000 | 14 | 1995 | 2017 | |||
|
1 | 1.000 | 0.120 | 19 | 12897818 | missense variant | G/A | snv | 1.1E-04 | 1.4E-04 | 0.820 | 1.000 | 14 | 1995 | 2016 | |||
|
1 | 1.000 | 0.120 | 19 | 12897788 | missense variant | G/C | snv | 1.2E-05 | 5.6E-05 | 0.800 | 1.000 | 10 | 1995 | 2014 | |||
|
1 | 1.000 | 0.120 | 19 | 12897789 | missense variant | G/C;T | snv | 4.0E-06 | 0.800 | 1.000 | 10 | 1995 | 2014 | ||||
|
2 | 0.925 | 0.120 | 19 | 12899471 | missense variant | C/T | snv | 0.810 | 1.000 | 8 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.120 | 19 | 12899466 | splice acceptor variant | A/C;G | snv | 8.8E-05 | 2.8E-05 | 0.700 | 1.000 | 8 | 2000 | 2019 | |||
|
1 | 1.000 | 0.120 | 19 | 12897794 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.120 | 19 | 12899485 | missense variant | G/A | snv | 2.0E-04 | 6.0E-04 | 0.700 | 1.000 | 7 | 1995 | 2014 | |||
|
1 | 1.000 | 0.120 | 19 | 12897840 | missense variant | T/C | snv | 0.700 | 1.000 | 7 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.120 | 19 | 12897768 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 7 | 1995 | 2014 | |||
|
1 | 1.000 | 0.120 | 19 | 12897833 | missense variant | A/G | snv | 6.0E-05; 1.6E-05 | 1.7E-04 | 0.710 | 1.000 | 5 | 2007 | 2016 | |||
|
1 | 1.000 | 0.120 | 19 | 12897776 | stop gained | C/G;T | snv | 1.6E-05; 8.0E-06 | 0.700 | 1.000 | 5 | 1996 | 2017 | ||||
|
1 | 1.000 | 0.120 | 19 | 12897859 | stop gained | C/A;G;T | snv | 4.0E-05 | 0.700 | 1.000 | 5 | 1995 | 2010 | ||||
|
1 | 1.000 | 0.120 | 19 | 12897860 | stop gained | G/A;T | snv | 4.4E-05 | 1.3E-04 | 0.710 | 1.000 | 4 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 19 | 12897777 | missense variant | G/A;C | snv | 8.0E-06; 1.2E-05 | 0.700 | 1.000 | 4 | 2000 | 2019 | ||||
|
1 | 1.000 | 0.120 | 19 | 12899510 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 1998 | 2014 | ||||
|
1 | 1.000 | 0.120 | 19 | 12897787 | frameshift variant | G/-;GG | delins | 8.0E-06 | 0.700 | 1.000 | 3 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 19 | 12899541 | stop lost | A/G | snv | 0.700 | 1.000 | 2 | 2000 | 2010 |