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 | 0.080 | 10 | 121517384 | missense variant | T/C | snv | 0.710 | 1.000 | 14 | 1995 | 2007 | |||||
|
13 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.742 | 0.160 | 10 | 121520010 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.827 | 0.280 | 8 | 38418270 | missense variant | T/C | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.760 | 1.000 | 6 | 1998 | 2014 | |||||
|
7 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.820 | 1.000 | 15 | 1995 | 2014 | ||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.710 | 1.000 | 9 | 1995 | 2015 | ||||
|
1 | 1.000 | 0.080 | 10 | 121517464 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 121517316 | splice region variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 121520037 | inframe deletion | CGTGCTTGATCCACTGGA/- | delins | 0.700 | 0 |