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 | 0.851 | 0.040 | 1 | 20649109 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
3 | 0.925 | 0.040 | 6 | 161785793 | missense variant | C/G | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 22 | 38112243 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 6 | 161548929 | synonymous variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 7 | 155456455 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 22 | 38112241 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.040 | 6 | 161785877 | missense variant | G/A | snv | 4.2E-04 | 4.5E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.851 | 0.040 | 6 | 161360193 | missense variant | C/T | snv | 2.5E-02 | 2.5E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
4 | 0.882 | 0.040 | 22 | 38132917 | missense variant | C/A;T | snv | 4.9E-05; 3.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 1 | 20645618 | missense variant | G/A | snv | 9.2E-02 | 5.0E-02 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.040 | 10 | 102244438 | upstream gene variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 7 | 155463312 | 3 prime UTR variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 6 | 161569358 | missense variant | C/G;T | snv | 1.3E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.040 | 1 | 7965425 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.882 | 0.040 | 1 | 20644651 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.040 | 1 | 20638104 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.080 | 1 | 7984981 | missense variant | T/C | snv | 0.030 | 1.000 | 3 | 2008 | 2012 | |||||
|
6 | 0.807 | 0.080 | 1 | 7962863 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2009 | 2010 | |||||
|
8 | 0.790 | 0.080 | 1 | 7970951 | missense variant | G/A;T | snv | 3.9E-04; 2.0E-05 | 0.020 | 1.000 | 2 | 2004 | 2010 | ||||
|
4 | 0.851 | 0.080 | 10 | 102231624 | missense variant | G/A;C;T | snv | 0.62; 8.3E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.807 | 0.080 | 21 | 32695106 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.827 | 0.080 | 4 | 89828154 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.080 | 10 | 102238914 | intron variant | A/T | snv | 0.66 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.020 | 1.000 | 2 | 2007 | 2008 | |||
|
13 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |