Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.240 | 1 | 159709026 | upstream gene variant | C/A;T | snv |
|
0.800 | 1.000 | 6 | 2007 | 2019 | |||||||||
|
0.827 | 0.120 | 1 | 159728759 | intergenic variant | G/A | snv | 0.31 |
|
0.800 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 159721769 | intergenic variant | G/A | snv | 0.32 |
|
0.800 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 120983004 | intron variant | G/A | snv | 0.28 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
1.000 | 0.120 | 1 | 159722747 | intergenic variant | T/A | snv | 0.15 |
|
0.800 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 4 | 2008 | 2019 | |||||||||
|
12 | 121001630 | 3 prime UTR variant | G/A | snv | 0.31 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||||
|
1 | 159706381 | upstream gene variant | T/C | snv | 5.6E-02 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||||
|
0.827 | 0.200 | 1 | 65636574 | synonymous variant | G/A | snv | 0.46 | 0.43 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||
|
0.827 | 0.280 | 12 | 120997784 | synonymous variant | G/A;T | snv | 6.7E-06; 0.40 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2018 | |||||||||
|
0.925 | 0.160 | 12 | 120965129 | intron variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.882 | 0.160 | 12 | 120965921 | splice region variant | G/A | snv | 0.59 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 159705143 | non coding transcript exon variant | C/T | snv | 0.34 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
1 | 159679910 | intergenic variant | C/T | snv | 5.3E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 159730249 | intergenic variant | A/G | snv | 6.8E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | |||||||
|
1 | 159700355 | downstream gene variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 2 | 2012 | 2013 | ||||||||||
|
0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
0.925 | 0.160 | 12 | 120986153 | intron variant | C/T | snv | 0.62 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 |
|
0.800 | 1.000 | 2 | 2011 | 2019 |