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 | 1.000 | 0.040 | X | 37777261 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 1 | 230710933 | intron variant | T/C | snv | 8.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 9 | 121302985 | missense variant | C/T | snv | 3.1E-04 | 4.0E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 1.000 | 0.080 | 1 | 230704350 | intron variant | T/A;C;G | snv | 1.2E-05; 0.11; 2.0E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 1 | 42934681 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 4 | 38797918 | missense variant | T/A;C;G | snv | 2.7E-02; 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 5 | 134216763 | intron variant | C/T | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.851 | 0.080 | 1 | 179564715 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.080 | 21 | 31646056 | intergenic variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.882 | 0.120 | 12 | 57415673 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.120 | 22 | 36355056 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 9 | 83540636 | upstream gene variant | C/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.120 | 12 | 47859573 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.120 | 19 | 40738982 | intron variant | G/A | snv | 0.76 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 6 | 32702531 | downstream gene variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.120 | 6 | 32251066 | upstream gene variant | A/G | snv | 0.41 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.807 | 0.120 | 5 | 35037010 | missense variant | C/T | snv | 0.21 | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.120 | 17 | 63482562 | synonymous variant | C/T | snv | 0.46 | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 6 | 32842071 | non coding transcript exon variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.882 | 0.160 | 11 | 77590296 | missense variant | G/A | snv | 0.14 | 0.13 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
12 | 0.790 | 0.160 | 17 | 41612325 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.925 | 0.160 | 22 | 36261386 | intron variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.160 | 12 | 57472038 | missense variant | G/C | snv | 0.60 | 0.68 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.160 | 9 | 35381507 | intron variant | C/T | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 |