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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 10 | 43120119 | missense variant | AGC/TTT | mnv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 5 | 35065789 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
9 | 0.776 | 0.120 | 10 | 43114491 | missense variant | G/A;T | snv | 4.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
7 | 0.790 | 0.120 | 10 | 43120120 | missense variant | GC/TT | mnv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.160 | 5 | 35070174 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 17 | 42299850 | missense variant | G/A | snv | 2.3E-04 | 7.0E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.776 | 0.160 | 10 | 43113621 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
15 | 0.724 | 0.120 | 10 | 43113622 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |