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 | 11 | 116791110 | missense variant | T/C | snv | 0.89 | 0.94 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
19 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 6 | 2009 | 2013 | ||||
|
4 | 11 | 116787315 | non coding transcript exon variant | T/G | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 9 | 72360220 | splice region variant | T/A;C | snv | 0.99 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 112512314 | intron variant | T/G | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 119081014 | intron variant | A/G | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 218439407 | intron variant | G/A | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 218436132 | intron variant | A/C | snv | 0.94 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 10 | 74114657 | intron variant | A/G | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 22 | 21577779 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
2 | 12 | 124913971 | splice region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 18 | 662135 | intron variant | A/G | snv | 8.2E-03 | 3.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 9 | 15305380 | intron variant | G/C | snv | 0.72 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 9 | 15289580 | intron variant | C/T | snv | 0.87 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 9 | 15296036 | intron variant | C/A | snv | 0.89 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 8 | 115586972 | intron variant | T/C;G | snv | 2.0E-04; 0.65 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
5 | 3 | 129976195 | intron variant | G/A | snv | 0.96 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 10 | 17192393 | intron variant | T/C | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 9 | 136886986 | intron variant | G/T | snv | 2.6E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 17 | 7677910 | intron variant | G/A | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 2 | 2012 | 2013 | |||
|
14 | 0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 | 0.700 | 1.000 | 1 | 2009 | 2009 |