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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 10 | 133536297 | intron variant | T/C | snv | 0.73 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
7 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 0.020 | 0.500 | 2 | 2010 | 2011 | ||||
|
3 | 0.925 | 0.080 | 3 | 37012090 | missense variant | C/G;T | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2007 | 2015 | ||||
|
3 | 0.882 | 0.080 | 15 | 32733778 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 17 | 59946963 | 3 prime UTR variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 19 | 7116952 | 3 prime UTR variant | T/C | snv | 0.83 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 17 | 4817174 | missense variant | C/T | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
5 | 0.851 | 0.080 | 7 | 55160316 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 14 | 75280415 | 5 prime UTR variant | G/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 2 | 47412433 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.882 | 0.080 | 17 | 7674971 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 1 | 109690516 | missense variant | G/A;C;T | snv | 0.36; 6.9E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 12 | 12926708 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 10 | 102824175 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.080 | X | 127010099 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.776 | 0.080 | 12 | 50761880 | upstream gene variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 17 | 50683692 | missense variant | G/A | snv | 3.7E-02 | 3.9E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
6 | 0.807 | 0.080 | 13 | 73064505 | intron variant | A/C | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 19 | 38813176 | upstream gene variant | G/T | snv | 9.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 14 | 102342318 | 3 prime UTR variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 6 | 31828202 | missense variant | G/A;T | snv | 1.9E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 7 | 127890817 | intron variant | A/G | snv | 1.7E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
11 | 0.763 | 0.080 | 18 | 48926786 | intron variant | A/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 11 | 65493967 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.925 | 0.080 | 1 | 65477024 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |