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 | 0.925 | 0.080 | 4 | 73435958 | intron variant | C/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 8 | 144504357 | missense variant | C/A;T | snv | 8.1E-06; 1.2E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 14 | 92110162 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 12 | 3648382 | 3 prime UTR variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 6 | 35534425 | TF binding site variant | T/C | snv | 0.85 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 17 | 58279015 | missense variant | G/A;C | snv | 4.2E-06 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
3 | 0.882 | 0.120 | 17 | 58279379 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
3 | 0.882 | 0.160 | 4 | 88726273 | 3 prime UTR variant | T/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 6 | 162721570 | intron variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 6 | 71403739 | intron variant | T/C | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 16 | 30751140 | stop gained | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.882 | 0.120 | 6 | 26092928 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 4 | 176689730 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.240 | 5 | 81069496 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.200 | 1 | 2597658 | intron variant | T/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 2 | 188985047 | non coding transcript exon variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 2 | 161138615 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.120 | 4 | 189571800 | intergenic variant | T/C | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 19 | 53788157 | non coding transcript exon variant | A/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 1 | 230710009 | missense variant | T/C | snv | 7.2E-04 | 6.8E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.160 | 1 | 65058899 | intron variant | C/G;T | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 6 | 26093122 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 4 | 94657500 | missense variant | G/A;T | snv | 8.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.120 | 6 | 26093128 | missense variant | C/T | snv | 3.5E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 |