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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
127 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.900 | 0.902 | 118 | 1997 | 2018 | |||
|
117 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.893 | 103 | 1997 | 2018 | |||||
|
2 | 0.925 | 0.120 | 3 | 12379856 | missense variant | G/A | snv | 3.6E-05 | 2.1E-05 | 0.080 | 0.875 | 8 | 2004 | 2009 | |||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.050 | 1.000 | 5 | 2004 | 2017 | |||
|
1 | 0.925 | 0.120 | 3 | 12311472 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 3 | 12310247 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 12318715 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 12335246 | intron variant | G/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 3 | 12326539 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.120 | 3 | 12298768 | intron variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 |