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 | 0.080 | 1 | 230710933 | intron variant | T/C | snv | 8.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 2 | 227008112 | missense variant | G/A | snv | 1.6E-04 | 1.8E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
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 | 0.120 | 9 | 83540636 | upstream gene variant | C/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | ||||
|
5 | 1.000 | 0.040 | 5 | 148825809 | 5 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 1.000 | 0.160 | 13 | 110192222 | missense variant | C/T | snv | 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 | ||||
|
2 | 1.000 | 0.080 | 1 | 42934681 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 12 | 49954295 | synonymous variant | T/C | snv | 0.77 | 0.71 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
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 | 5 | 134216763 | intron variant | C/T | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | X | 108602973 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.120 | 6 | 32842071 | non coding transcript exon variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.080 | 21 | 31646056 | intergenic variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.240 | 9 | 126693319 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 37701122 | missense variant | G/C | snv | 1.9E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
3 | 0.925 | 0.200 | 17 | 63498888 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.160 | 22 | 36261386 | intron variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.200 | 6 | 33118671 | non coding transcript exon variant | G/A | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.120 | 12 | 47859573 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.160 | 9 | 35381507 | intron variant | C/T | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.120 | 19 | 40738982 | intron variant | G/A | snv | 0.76 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.160 | 15 | 74408859 | downstream gene variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 |