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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.060 | 0.833 | 6 | 2007 | 2019 | |||||
|
7 | 0.851 | 0.160 | 20 | 4699466 | synonymous variant | A/G;T | snv | 4.0E-06; 1.4E-04 | 0.060 | 1.000 | 6 | 2000 | 2019 | ||||
|
7 | 0.790 | 0.120 | 12 | 40263898 | missense variant | C/A;G | snv | 4.0E-06; 8.7E-02 | 0.060 | 1.000 | 6 | 2012 | 2019 | ||||
|
3 | 0.925 | 0.080 | 1 | 205754444 | upstream gene variant | C/A;T | snv | 0.730 | 0.833 | 6 | 2014 | 2020 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.060 | 1.000 | 6 | 2004 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 205838885 | intron variant | C/A;T | snv | 0.730 | 1.000 | 5 | 2009 | 2016 | |||||
|
2 | 0.925 | 0.040 | 8 | 16992989 | 3 prime UTR variant | C/G;T | snv | 0.050 | 0.800 | 5 | 2004 | 2018 | |||||
|
1 | 1.000 | 0.040 | 8 | 16839582 | intron variant | G/A;C | snv | 0.730 | 1.000 | 5 | 2014 | 2018 | |||||
|
6 | 0.807 | 0.080 | 1 | 7962863 | missense variant | G/A | snv | 0.050 | 0.600 | 5 | 2003 | 2016 | |||||
|
4 | 0.851 | 0.120 | 1 | 155239889 | missense variant | T/C | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2014 | 2018 | ||||
|
2 | 1.000 | 0.040 | 12 | 40034759 | intron variant | G/A;T | snv | 0.810 | 1.000 | 4 | 2009 | 2016 | |||||
|
2 | 1.000 | 0.040 | 1 | 171863954 | intron variant | C/G;T | snv | 0.040 | 0.750 | 4 | 2018 | 2019 | |||||
|
9 | 0.763 | 0.120 | 12 | 40340404 | missense variant | T/C | snv | 0.040 | 1.000 | 4 | 2006 | 2014 | |||||
|
2 | 1.000 | 0.040 | 4 | 89754087 | intron variant | A/G;T | snv | 0.710 | 1.000 | 4 | 2009 | 2016 | |||||
|
2 | 0.925 | 0.040 | 12 | 40309225 | missense variant | A/C | snv | 0.040 | 1.000 | 4 | 2010 | 2019 | |||||
|
5 | 0.827 | 0.040 | 3 | 184322862 | missense variant | G/A | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2013 | 2015 | ||||
|
2 | 1.000 | 0.040 | 4 | 864544 | intron variant | C/G;T | snv | 0.820 | 1.000 | 3 | 2010 | 2014 | |||||
|
1 | 1.000 | 0.040 | 16 | 19268142 | 3 prime UTR variant | T/C;G | snv | 0.710 | 1.000 | 3 | 2016 | 2019 | |||||
|
2 | 1.000 | 0.040 | 2 | 232794835 | missense variant | A/C;G | snv | 3.9E-04; 8.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2015 | ||||
|
7 | 0.790 | 0.160 | X | 43768752 | intron variant | T/A;C | snv | 0.43 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
3 | 0.925 | 0.120 | 6 | 161386823 | missense variant | C/G;T | snv | 0.16; 3.2E-05 | 0.030 | 0.667 | 3 | 2003 | 2020 | ||||
|
1 | 1.000 | 0.040 | 4 | 89713869 | intron variant | T/A;C | snv | 0.710 | 1.000 | 3 | 2011 | 2015 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.030 | 0.667 | 3 | 2017 | 2020 | ||||
|
5 | 0.827 | 0.080 | 10 | 58388932 | intron variant | A/C;G;T | snv | 0.030 | 1.000 | 3 | 2007 | 2013 | |||||
|
2 | 0.925 | 0.080 | 4 | 89839677 | non coding transcript exon variant | C/A;T | snv | 0.720 | 1.000 | 3 | 2007 | 2012 |