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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.742 | 0.280 | 12 | 10118488 | stop gained | A/C;G | snv | 6.2E-02 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
2 | 0.925 | 0.080 | 9 | 117712993 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | X | 12891363 | downstream gene variant | C/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
28 | 0.662 | 0.480 | 4 | 38798089 | missense variant | T/C | snv | 0.38 | 0.44 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
7 | 0.807 | 0.160 | 4 | 38798593 | missense variant | C/G | snv | 6.9E-02 | 7.1E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
21 | 0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
18 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
9 | 0.790 | 0.280 | 3 | 119912967 | intron variant | A/G | snv | 0.54 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 9 | 117713471 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 117713902 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 |