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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.080 | 1.000 | 8 | 2003 | 2020 | |||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.040 | 1.000 | 4 | 2017 | 2019 | ||||
|
13 | 0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 | 0.040 | 1.000 | 4 | 2011 | 2018 | ||||
|
6 | 0.827 | 0.320 | 7 | 134459206 | non coding transcript exon variant | G/A | snv | 0.33 | 0.040 | 1.000 | 4 | 2009 | 2019 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2011 | 2017 | |||||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.030 | 1.000 | 3 | 2011 | 2015 | ||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.030 | 1.000 | 3 | 2014 | 2017 | ||||
|
14 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2011 | 2015 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.160 | 7 | 100722313 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2010 | 2017 | |||||
|
14 | 0.776 | 0.360 | 12 | 121902546 | non coding transcript exon variant | G/A | snv | 0.24 | 0.030 | 1.000 | 3 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.120 | 10 | 20304158 | intergenic variant | G/T | snv | 0.15 | 0.810 | 1.000 | 2 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.120 | 3 | 157136953 | downstream gene variant | G/A | snv | 7.9E-02 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
4 | 0.851 | 0.280 | 6 | 43770057 | upstream gene variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.020 | 1.000 | 2 | 2004 | 2006 | ||||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
28 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
14 | 0.732 | 0.520 | 9 | 117702447 | upstream gene variant | G/A | snv | 0.52 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
2 | 0.925 | 0.160 | 15 | 45022396 | upstream gene variant | C/G | snv | 0.19 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.120 | 7 | 29215854 | intron variant | A/G | snv | 0.32 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.120 | 10 | 57429418 | intergenic variant | T/C | snv | 0.55 | 0.810 | 1.000 | 2 | 2011 | 2019 | ||||
|
4 | 0.882 | 0.160 | 10 | 48491914 | intron variant | C/T | snv | 0.38 | 0.810 | 1.000 | 2 | 2011 | 2014 | ||||
|
5 | 0.925 | 0.160 | 7 | 100723905 | downstream gene variant | G/T | snv | 0.62 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
18 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 |