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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.100 | 0.917 | 12 | 2004 | 2019 | ||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.100 | 1.000 | 11 | 2002 | 2017 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.100 | 0.800 | 10 | 2003 | 2015 | ||||
|
8 | 0.807 | 0.080 | 10 | 77856847 | missense variant | T/A;C | snv | 0.93 | 0.100 | 0.700 | 10 | 2005 | 2016 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.040 | 0.750 | 4 | 2008 | 2012 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.040 | 1.000 | 4 | 2006 | 2013 | ||||
|
3 | 0.925 | 0.040 | 1 | 1312114 | synonymous variant | T/A;C;G | snv | 0.56 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
7 | 0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
3 | 0.925 | 0.040 | 10 | 77811115 | frameshift variant | G/-;GG | delins | 0.030 | 1.000 | 3 | 2007 | 2016 | |||||
|
6 | 0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2009 | ||||
|
6 | 0.827 | 0.080 | 19 | 17192965 | missense variant | T/A;G | snv | 1.3E-05; 0.52 | 0.030 | 0.667 | 3 | 2006 | 2016 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.040 | 10 | 77811115 | missense variant | G/A;C;T | snv | 4.0E-06; 8.0E-06; 5.7E-02 | 0.030 | 1.000 | 3 | 2007 | 2016 | ||||
|
6 | 0.827 | 0.120 | 20 | 59249254 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
10 | 0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
5 | 0.851 | 0.240 | 5 | 132393705 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2010 | ||||
|
10 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.810 | 1.000 | 2 | 2012 | 2016 | |||||
|
5 | 0.851 | 0.160 | 7 | 6382925 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2011 | 2015 | |||||
|
2 | 1.000 | 0.040 | 10 | 110426390 | downstream gene variant | C/G;T | snv | 0.710 | 1.000 | 2 | 2014 | 2017 | |||||
|
8 | 0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
3 | 0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
19 | 0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 | 0.020 | 0.500 | 2 | 2002 | 2008 | ||||
|
2 | 1.000 | 0.040 | 19 | 10402235 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 1999 | 2001 | |||||
|
3 | 8 | 129611859 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2017 |