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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 3 | 183978614 | synonymous variant | A/G | snv | 0.58 | 0.61 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.040 | 2 | 187394177 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.040 | 19 | 49060867 | non coding transcript exon variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 3 | 123150194 | intron variant | C/T | snv | 8.6E-02 | 6.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.040 | 3 | 184034985 | intron variant | G/A | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 7 | 81734871 | intron variant | C/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 1 | 107874935 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 1 | 102839465 | intron variant | A/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
31 | 0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.040 | 10 | 68241124 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 9 | 133855699 | intron variant | G/A | snv | 9.2E-02 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 11 | 16802189 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
15 | 0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 1 | 171649516 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.040 | 2 | 32545090 | intron variant | A/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 1 | 107959790 | intron variant | C/A | snv | 0.62 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.040 | 7 | 81771623 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.040 | 22 | 19902302 | intron variant | G/T | snv | 0.30 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.040 | 7 | 150998107 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
15 | 0.716 | 0.320 | 15 | 73927241 | missense variant | G/A;C;T | snv | 0.18; 4.5E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |