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 | 5 | 1432710 | intron variant | G/A;C;T | snv | 1.6E-05; 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 4 | 7213595 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
11 | 0.776 | 0.360 | 1 | 11790308 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 16 | 704314 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 11 | 89008492 | intron variant | A/G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.807 | 0.200 | X | 114584109 | 5 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 2 | 161719475 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
22 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 5 | 7755787 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | X | 43732253 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
7 | 0.807 | 0.040 | X | 43731789 | synonymous variant | G/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 16 | 19864823 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 12 | 106066124 | 3 prime UTR variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.040 | 16 | 83074041 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 1 | 175764827 | intergenic variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 153855979 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 10 | 8484656 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 11 | 639273 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 15 | 68422693 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 15 | 80394651 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.827 | 0.120 | 16 | 55703779 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 4 | 61935010 | missense variant | T/A;C | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 175817031 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |