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 | 10 | 49500634 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.240 | 13 | 102868152 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
7 | 0.807 | 0.240 | 1 | 156136359 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.160 | 5 | 60890964 | stop gained | G/C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.400 | 19 | 45414870 | missense variant | G/A;C | snv | 1.2E-05; 1.6E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.240 | 16 | 13935663 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 19 | 45414887 | stop gained | T/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 10 | 49500628 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 10 | 49500616 | missense variant | A/C | snv | 4.0E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
8 | 0.776 | 0.280 | 16 | 13935697 | missense variant | C/G;T | snv | 1.2E-05; 6.4E-05 | 0.710 | 1.000 | 7 | 2010 | 2018 | ||||
|
9 | 0.776 | 0.240 | 1 | 156114947 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |