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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.200 | 9 | 123684499 | intron variant | G/A | snv | 5.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 9 | 123787676 | intron variant | T/G | snv | 6.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.200 | 2 | 43494369 | intron variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.790 | 0.200 | 2 | 48751020 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.200 | 2 | 43411699 | intron variant | A/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 11 | 35206198 | missense variant | A/G | snv | 4.4E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.200 | 20 | 50510548 | missense variant | C/G;T | snv | 6.4E-06; 4.5E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
7 | 0.851 | 0.200 | 19 | 7166098 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
9 | 0.790 | 0.320 | 10 | 95414595 | missense variant | T/C | snv | 8.2E-02 | 0.13 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
4 | 0.882 | 0.240 | 1 | 30874473 | missense variant | G/A;C | snv | 9.3E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.240 | 15 | 51237582 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.240 | 1 | 30876800 | missense variant | C/A;G;T | snv | 8.3E-06; 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.200 | 8 | 94431578 | 3 prime UTR variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.280 | 1 | 9245386 | missense variant | A/C | snv | 0.12 | 0.10 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.827 | 0.280 | 9 | 94886305 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||
|
24 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
6 | 0.851 | 0.200 | 19 | 1209715 | intron variant | C/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.020 | 1.000 | 2 | 2002 | 2009 | |||
|
10 | 0.752 | 0.440 | 1 | 9263851 | missense variant | G/A;C | snv | 0.28; 1.2E-04 | 0.020 | 1.000 | 2 | 2012 | 2015 |