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 | 9 | 114730737 | intergenic variant | T/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 10 | 52772131 | upstream gene variant | T/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 3 | 183886132 | intron variant | T/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.925 | 0.040 | 6 | 31273211 | intron variant | T/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
28 | 0.662 | 0.480 | 4 | 38798089 | missense variant | T/C | snv | 0.38 | 0.44 | 0.020 | 1.000 | 2 | 2009 | 2013 | |||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
2 | 0.925 | 0.120 | 16 | 50685192 | upstream gene variant | T/C | snv | 0.68 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 13 | 43823679 | downstream gene variant | T/C | snv | 0.53 | 0.710 | 1.000 | 2 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 89650713 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 8 | 6870594 | 3 prime UTR variant | T/C | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 12 | 40158615 | intron variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 162495517 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 16 | 85802650 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.120 | 11 | 1280752 | intron variant | T/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 3 | 16540153 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 9 | 114802595 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 12272347 | intergenic variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.200 | 13 | 43883879 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 1 | 67132294 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.851 | 0.120 | 6 | 32641349 | missense variant | T/A;C | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.080 | 6 | 162792422 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 7 | 33429629 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |