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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.750 | 1.000 | 7 | 2002 | 2009 | |||
|
3 | 0.882 | 0.080 | 5 | 147828020 | splice donor variant | A/G;T | snv | 3.1E-04 | 0.700 | 0 | |||||||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2006 | ||||
|
10 | 0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||
|
4 | 0.882 | 0.120 | 8 | 11853351 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.020 | 1.000 | 2 | 2006 | 2008 | |||
|
6 | 0.851 | 0.160 | 8 | 11853378 | frameshift variant | AG/- | del | 1.6E-04 | 1.5E-04 | 0.020 | 1.000 | 2 | 2006 | 2008 | |||
|
10 | 0.763 | 0.120 | 16 | 84845883 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2009 | |||
|
1 | 1.000 | 0.080 | 10 | 112950901 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.790 | 0.160 | 7 | 142774035 | missense variant | G/A | snv | 1.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.790 | 0.160 | 7 | 142773993 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 7 | 142750587 | missense variant | G/A;C | snv | 2.4E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 |