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 | 1.000 | 0.080 | 2 | 102338622 | intron variant | G/A | snv | 0.18 | 0.810 | 1.000 | 2 | 2011 | 2012 | ||||
|
4 | 0.851 | 0.280 | 6 | 32390736 | non coding transcript exon variant | G/A | snv | 0.72 | 0.810 | 1.000 | 2 | 2011 | 2020 | ||||
|
7 | 0.790 | 0.360 | 6 | 32690302 | TF binding site variant | T/C | snv | 0.15 | 0.810 | 0.500 | 2 | 2011 | 2020 | ||||
|
1 | 1.000 | 0.080 | 1 | 197356778 | intron variant | T/A;G | snv | 0.810 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.160 | 6 | 32216568 | non coding transcript exon variant | T/C | snv | 0.21 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.200 | 11 | 76559639 | regulatory region variant | A/G | snv | 0.29 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 6 | 32411712 | upstream gene variant | C/T | snv | 0.24 | 0.810 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.160 | 6 | 33075103 | intron variant | A/G | snv | 0.19 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.800 | 1.000 | 13 | 2009 | 2018 | |||
|
1 | 1.000 | 0.080 | 5 | 60073967 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2009 | 2011 | |||||
|
4 | 1.000 | 0.080 | 5 | 132387596 | intron variant | T/C | snv | 0.46 | 0.800 | 1.000 | 3 | 2010 | 2012 | ||||
|
7 | 0.807 | 0.120 | 9 | 6213387 | upstream gene variant | G/A;C | snv | 0.800 | 1.000 | 3 | 2010 | 2019 | |||||
|
4 | 0.882 | 0.160 | 17 | 39887090 | intergenic variant | G/A | snv | 0.45 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||
|
3 | 0.925 | 0.160 | 17 | 39910014 | intron variant | G/C;T | snv | 0.800 | 1.000 | 2 | 2011 | 2019 | |||||
|
2 | 0.925 | 0.120 | 6 | 32652506 | intergenic variant | C/T | snv | 0.49 | 0.800 | 1.000 | 2 | 2010 | 2019 | ||||
|
4 | 0.882 | 0.160 | 17 | 39905964 | missense variant | C/T | snv | 0.43 | 0.39 | 0.800 | 1.000 | 2 | 2011 | 2018 | |||
|
3 | 0.882 | 0.160 | 6 | 32408196 | upstream gene variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2011 | 2018 | |||||
|
3 | 0.925 | 0.160 | 17 | 39911790 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.080 | 10 | 8930055 | intergenic variant | G/A | snv | 0.14 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 158962765 | intron variant | C/T | snv | 0.92 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 114360533 | intron variant | T/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.200 | 12 | 56018703 | intron variant | T/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.240 | 6 | 32187804 | intron variant | A/G | snv | 0.24 | 0.26 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.200 | 12 | 55970537 | intron variant | A/G | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 1.000 | 0.080 | 9 | 6193455 | upstream gene variant | C/A | snv | 0.65 | 0.800 | 1.000 | 1 | 2011 | 2011 |