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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.120 | 22 | 23771357 | intron variant | C/T | snv | 0.82 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 17 | 34320382 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.925 | 0.120 | 9 | 35674056 | missense variant | G/A | snv | 0.37 | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
12 | 0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.925 | 0.120 | 19 | 10286727 | non coding transcript exon variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.807 | 0.280 | 16 | 78432540 | missense variant | C/G | snv | 7.1E-02 | 7.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.882 | 0.160 | 1 | 203187994 | upstream gene variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.851 | 0.120 | 22 | 23775338 | intron variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |