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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 18 | 60371844 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 18 | 60371445 | missense variant | T/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 11 | 120480110 | missense variant | A/G | snv | 3.3E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 2 | 11787112 | missense variant | G/A;T | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 12 | 113398557 | missense variant | G/A | snv | 1.3E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 12 | 102419531 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 16 | 1792152 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 13 | 75359852 | stop gained | G/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 247438055 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 11 | 17470170 | missense variant | T/C | snv | 2.5E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 14 | 80200883 | 3 prime UTR variant | A/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 12 | 102480984 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 5 | 143342788 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.160 | 5 | 75362479 | intron variant | A/G | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 1 | 247451315 | missense variant | C/T | snv | 0.41 | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 2 | 11797032 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 18 | 60371868 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 4 | 184816689 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 20 | 44424116 | missense variant | C/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.240 | 19 | 17816591 | 3 prime UTR variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.080 | 9 | 19119676 | missense variant | A/G | snv | 4.1E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.040 | 10 | 87053380 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.120 | 12 | 120737721 | non coding transcript exon variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 2 | 231123707 | stop gained | G/A | snv | 1.5E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 |