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 | 7 | 107852344 | intergenic variant | A/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 19874497 | intergenic variant | A/C;G | snv | 0.53 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 19901230 | intron variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 7 | 27192143 | intron variant | C/T | snv | 0.73 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 32237268 | intergenic variant | G/A | snv | 4.5E-02 | 0.800 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 40410833 | upstream gene variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 16 | 68640885 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 11 | 114561234 | upstream gene variant | A/G | snv | 0.42 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.160 | 5 | 159399784 | intron variant | C/A;G | snv | 0.29 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 106074152 | intron variant | T/C | snv | 0.86 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 12 | 68106295 | intron variant | G/A | snv | 0.32 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 17 | 72645559 | downstream gene variant | A/C | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 2581777 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 7 | 99162881 | regulatory region variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 6 | 31143579 | intron variant | C/T | snv | 0.16 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 6 | 32465058 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 43828231 | intron variant | G/T | snv | 0.83 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 13 | 39931373 | regulatory region variant | C/T | snv | 0.44 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 3 | 49682296 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.040 | 9 | 114842790 | upstream gene variant | T/C | snv | 0.13 | 0.710 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 9 | 5260079 | intergenic variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 6 | 116447754 | intron variant | A/G | snv | 0.33 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 1 | 67182913 | missense variant | G/A | snv | 7.3E-03 | 4.5E-03 | 0.710 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |