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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 4 | 46388848 | 5 prime UTR variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 11 | 113910259 | intron variant | T/C | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.080 | 11 | 113476233 | upstream gene variant | A/G | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463564 | 5 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.120 | 11 | 27701142 | intron variant | C/T | snv | 5.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 9 | 13235288 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 17 | 65135491 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.200 | 22 | 38299094 | intron variant | T/C | snv | 0.90 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 16 | 10174473 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.160 | 11 | 27646808 | intron variant | G/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 11 | 27676827 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 17 | 12714384 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 9 | 101605720 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 11 | 18025708 | splice region variant | G/A;T | snv | 0.39 | 0.33 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 5 | 161332949 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 133762000 | intergenic variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.827 | 0.160 | 5 | 161329618 | 3 prime UTR variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 170813611 | non coding transcript exon variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 4 | 125146073 | intergenic variant | A/T | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 22 | 38319217 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.200 | 20 | 1979293 | 3 prime UTR variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2011 | 2011 |