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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.900 | 0.889 | 4 | 2007 | 2018 | ||||
|
1 | 0.925 | 0.080 | 15 | 60777789 | intron variant | C/T | snv | 0.23 | 0.820 | 1.000 | 3 | 2010 | 2019 | ||||
|
2 | 0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 | 0.840 | 1.000 | 3 | 2010 | 2020 | ||||
|
1 | 1.000 | 0.080 | 5 | 60073967 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2009 | 2011 | |||||
|
2 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.840 | 0.929 | 3 | 2010 | 2019 | ||||
|
4 | 1.000 | 0.080 | 5 | 132387596 | intron variant | T/C | snv | 0.46 | 0.800 | 1.000 | 3 | 2010 | 2012 | ||||
|
2 | 0.790 | 0.160 | 22 | 37137994 | intron variant | G/A | snv | 0.43 | 0.810 | 1.000 | 3 | 2010 | 2012 | ||||
|
7 | 0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv | 0.720 | 1.000 | 3 | 2010 | 2012 | |||||
|
2 | 1.000 | 0.080 | 2 | 102369762 | intron variant | G/A;T | snv | 0.810 | 1.000 | 3 | 2010 | 2012 | |||||
|
2 | 0.827 | 0.160 | 5 | 132634182 | intron variant | T/C | snv | 0.24 | 0.710 | 1.000 | 3 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.080 | 15 | 67154447 | intron variant | G/A;T | snv | 0.810 | 1.000 | 3 | 2010 | 2012 | |||||
|
2 | 0.925 | 0.080 | 17 | 39936460 | intron variant | T/C | snv | 0.45 | 0.710 | 1.000 | 3 | 2010 | 2012 | ||||
|
1 | 0.827 | 0.200 | 6 | 32658092 | upstream gene variant | T/C;G | snv | 0.810 | 1.000 | 3 | 2010 | 2012 | |||||
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 8 | 27462388 | intron variant | C/T | snv | 4.0E-02 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
1 | 0.807 | 0.280 | 17 | 39869164 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
5 | 0.882 | 0.200 | 3 | 32973977 | regulatory region variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 2 | 102338622 | intron variant | G/A | snv | 0.18 | 0.810 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 0.925 | 0.160 | 2 | 102338193 | 5 prime UTR variant | C/T | snv | 0.18 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
7 | 0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.160 | 21 | 15432901 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 39709752 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 39661229 | non coding transcript exon variant | T/C | snv | 0.61 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
6 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.820 | 1.000 | 2 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.080 | 5 | 60088059 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2009 | 2010 |