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 | 0.120 | 4 | 3322040 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 2989313 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 3263687 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 4 | 3307545 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 3263654 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 3305911 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 4 | 3134226 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.120 | 4 | 3194302 | intron variant | A/C;T | snv | 0.51 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 3078446 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 4 | 3407656 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 4 | 3146549 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 2484759 | intron variant | C/A;T | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.790 | 0.440 | 10 | 67903362 | intron variant | C/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 17 | 16047840 | intron variant | T/C | snv | 4.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 6 | 146716848 | intron variant | C/A | snv | 1.7E-02 | 3.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 4 | 3367918 | intron variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 2910336 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 3223662 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 4 | 3215088 | intron variant | C/G | snv | 0.42 | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.851 | 0.280 | 8 | 39908329 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 4 | 3281695 | intergenic variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 7 | 16455781 | regulatory region variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2007 | 2013 | |||||
|
10 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 0.030 | 1.000 | 3 | 2002 | 2009 |