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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 28835097 | intron variant | T/C | snv | 0.28 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 154062523 | intron variant | T/C | snv | 0.17 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
5 | 0.882 | 0.080 | 7 | 70341037 | intron variant | T/A | snv | 0.34 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 1.000 | 0.080 | 5 | 175445317 | upstream gene variant | A/G | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.925 | 0.080 | 2 | 79751234 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 20 | 1973693 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 1 | 163535374 | intergenic variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 65218385 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
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 | ||||
|
3 | 0.925 | 0.080 | 11 | 113476233 | upstream gene variant | A/G | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 9 | 13235288 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 0.080 | 1 | 49441901 | intron variant | G/A | snv | 7.3E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 17 | 65135491 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 16 | 10174473 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
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 | ||||
|
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 |