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 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 | 0.020 | 0.500 | 2 | 2002 | 2015 | ||||
|
4 | 0.925 | 0.120 | 8 | 1906652 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 0.500 | 2 | 2005 | 2005 | ||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.020 | < 0.001 | 2 | 2013 | 2017 | |||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 13 | 110181552 | intron variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2018 | 2018 | |||||||
|
6 | 0.851 | 0.160 | 13 | 30758410 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
9 | 0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 9 | 100689786 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
7 | 0.827 | 0.120 | 19 | 15192033 | synonymous variant | T/A;C | snv | 4.0E-06; 0.85 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 1 | 156232382 | missense variant | A/C;G | snv | 1.0E-03; 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.120 | 12 | 12259861 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
11 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 6 | 39302834 | intron variant | C/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 11 | 27706555 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
3 | 15 | 74942269 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 147468451 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 5 | 3756587 | intergenic variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 11 | 72237492 | missense variant | C/G;T | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
21 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 5 | 179108712 | downstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |