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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.893 | 103 | 1997 | 2018 | |||||
|
5 | 0.851 | 0.160 | 3 | 12353341 | intron variant | C/T | snv | 0.26 | 0.800 | 1.000 | 2 | 2012 | 2018 | ||||
|
3 | 0.925 | 0.120 | 3 | 12295008 | intron variant | G/A | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 3 | 12311472 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
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 | 12288284 | intron variant | C/T | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
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 | |||||
|
1 | 1.000 | 0.080 | 3 | 12343858 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 3 | 12354146 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 3 | 12355414 | intron variant | G/A | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 3 | 12298768 | intron variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 12349804 | intron variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 12349824 | intron variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 12350786 | intron variant | A/C;G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
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 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.900 | 0.902 | 122 | 1997 | 2018 | |||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.050 | 1.000 | 5 | 2004 | 2017 |