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 | 0.160 | 14 | 24082758 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.807 | 0.160 | 15 | 71813573 | missense variant | G/A | snv | 4.0E-04 | 3.1E-04 | 0.820 | 1.000 | 11 | 2000 | 2014 | |||
|
2 | 0.925 | 0.160 | 15 | 71811966 | missense variant | G/A | snv | 4.3E-03 | 1.8E-03 | 0.720 | 1.000 | 10 | 2000 | 2019 | |||
|
1 | 1.000 | 0.160 | 15 | 71811590 | missense variant | C/A;T | snv | 1.3E-05; 3.0E-05; 4.4E-06 | 2.8E-05 | 0.800 | 1.000 | 8 | 2000 | 2013 | |||
|
1 | 1.000 | 0.160 | 15 | 71811591 | missense variant | G/A | snv | 2.0E-04 | 3.1E-04 | 0.700 | 1.000 | 8 | 2000 | 2013 | |||
|
1 | 1.000 | 0.160 | 15 | 71811783 | missense variant | G/A;T | snv | 0.700 | 1.000 | 8 | 2000 | 2013 | |||||
|
1 | 1.000 | 0.160 | 15 | 71811810 | missense variant | G/A | snv | 2.1E-05 | 0.700 | 1.000 | 8 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.160 | 15 | 71814024 | missense variant | T/C | snv | 8.2E-06 | 7.0E-06 | 0.700 | 1.000 | 8 | 2000 | 2013 | |||
|
1 | 1.000 | 0.160 | 15 | 71811768 | missense variant | G/A | snv | 1.3E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.160 | 15 | 71813408 | missense variant | C/A;T | snv | 3.7E-05; 2.1E-05 | 0.710 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.160 | 15 | 71814020 | missense variant | G/C | snv | 8.2E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.925 | 0.160 | 15 | 71811831 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.160 | 14 | 24082491 | missense variant | C/T | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.160 | X | 154150787 | missense variant | A/G | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 15 | 71817671 | missense variant | T/A;C | snv | 8.1E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 15 | 71817605 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 15 | 71813566 | missense variant | C/G;T | snv | 4.1E-06; 8.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 15 | 71811830 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
8 | 0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 | 0.700 | 1.000 | 2 | 2004 | 2008 | |||
|
3 | 0.882 | 0.160 | 15 | 71811553 | inframe deletion | ACGGCTGCA/- | delins | 0.700 | 1.000 | 7 | 2000 | 2016 | |||||
|
1 | 1.000 | 0.160 | 15 | 71811559 | inframe deletion | GCAGCGGCT/- | delins | 0.700 | 0 |