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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.160 | 5 | 157110499 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.240 | 8 | 127081052 | non coding transcript exon variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 19 | 35648270 | upstream gene variant | G/A | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.790 | 0.200 | 19 | 48703374 | missense variant | A/T | snv | 3.6E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.882 | 0.120 | 17 | 36102943 | upstream gene variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.120 | 1 | 117147650 | 3 prime UTR variant | G/A | snv | 0.88 | 0.76 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
18 | 0.701 | 0.440 | 12 | 62603400 | non coding transcript exon variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.807 | 0.120 | 5 | 119393693 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.732 | 0.320 | 6 | 43523209 | 3 prime UTR variant | T/G | snv | 0.47 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.851 | 0.120 | 14 | 55145121 | missense variant | A/T | snv | 6.5E-02 | 5.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
11 | 0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
13 | 0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.827 | 0.160 | 2 | 112834078 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |