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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.120 | 5 | 143400772 | missense variant | C/G;T | snv | 4.0E-06; 1.8E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.240 | 7 | 117540273 | missense variant | T/A | snv | 1.4E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.763 | 0.280 | 7 | 117509123 | missense variant | G/A;T | snv | 4.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
8 | 0.790 | 0.280 | 7 | 117540270 | missense variant | G/A;C;T | snv | 2.4E-05; 2.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 15 | 98891384 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.200 | 17 | 63917909 | missense variant | G/A | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.160 | 17 | 42292005 | missense variant | C/T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.200 | 3 | 87259959 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 0.925 | 0.160 | 19 | 40458393 | missense variant | G/A | snv | 2.8E-05 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
7 | 0.807 | 0.160 | 20 | 63495062 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 |