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 | 0.040 | 21 | 22474790 | intergenic variant | A/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 21 | 46271302 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 21 | 38911809 | intron variant | C/T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 9 | 121019492 | intron variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 72871328 | intron variant | A/G | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.752 | 0.440 | 9 | 117716658 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.040 | 6 | 41411577 | intergenic variant | G/A | snv | 0.81 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 6 | 124238586 | intron variant | C/T | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.030 | 1.000 | 3 | 2013 | 2017 | |||
|
2 | 0.925 | 0.040 | 2 | 129276753 | upstream gene variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.040 | 4 | 13241173 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 16 | 13294921 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 10 | 10298081 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
33 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 5 | 168216540 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 4 | 1316113 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 3 | 158796571 | intron variant | T/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 3 | 119814886 | intron variant | G/A;T | snv | 0.46 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.120 | 1 | 186690727 | intergenic variant | G/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.020 | 0.500 | 2 | 2004 | 2010 |