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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 | 0.100 | 0.833 | 12 | 2010 | 2019 | ||||
|
11 | 0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 9 | 97862320 | intergenic variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.763 | 0.360 | 9 | 94167461 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 14 | 36235879 | upstream gene variant | A/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 14 | 36242363 | intergenic variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | X | 91591642 | intergenic variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 8 | 127649850 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
32 | 0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 8 | 26770171 | missense variant | C/A;T | snv | 4.6E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 96115436 | synonymous variant | G/A;C | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.200 | 2 | 175167648 | mature miRNA variant | G/A;T | snv | 4.4E-02; 1.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.030 | 1.000 | 3 | 2009 | 2016 | |||
|
3 | 0.882 | 0.120 | 11 | 108349930 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 108325782 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 0.959 | 387 | 2003 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.956 | 367 | 2003 | 2019 | |||||
|
34 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.070 | 0.857 | 7 | 2004 | 2019 | ||||
|
4 | 0.925 | 0.120 | 7 | 140800651 | intron variant | T/A | snv | 1.5E-02 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 1.000 | 0.080 | 7 | 140914412 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 7 | 140792239 | intron variant | T/C | snv | 0.11 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 7 | 140858940 | intron variant | G/C | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 7 | 140806604 | intron variant | T/A | snv | 5.5E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 |