| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 1 | 67264945 | downstream gene variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 1 | 191590226 | intergenic variant | A/T | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 10 | 119345799 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2016 | |||||||||
|
0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.280 | 10 | 62678726 | downstream gene variant | G/C | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
1.000 | 0.040 | 13 | 20365097 | intergenic variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 16 | 50658453 | intergenic variant | G/A | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 5 | 142099500 | regulatory region variant | A/C | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | 12 | 40208138 | non coding transcript exon variant | C/T | snv | 2.8E-02 |
|
0.820 | 1.000 | 1 | 2008 | 2013 | ||||||||
|
0.827 | 0.160 | 10 | 99531836 | upstream gene variant | T/C | snv | 0.55 |
|
0.810 | 1.000 | 1 | 2008 | 2014 | ||||||||
|
1.000 | 0.040 | 10 | 99532633 | upstream gene variant | C/T | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 10 | 110426390 | downstream gene variant | C/G;T | snv |
|
0.810 | 1.000 | 1 | 2014 | 2017 | |||||||||
|
1.000 | 0.040 | 1 | 67059360 | regulatory region variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 1 | 67124778 | intron variant | T/C | snv | 0.77 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 1 | 67135449 | intron variant | G/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.080 | 1 | 67157615 | intron variant | G/A;T | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 |
|
0.710 | 1.000 | 1 | 2006 | 2013 | ||||||||
|
1.000 | 0.040 | 11 | 57435536 | regulatory region variant | C/T | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 11 | 72822491 | missense variant | C/T | snv | 7.0E-03 | 2.3E-03 |
|
0.730 | 1.000 | 1 | 2014 | 2016 | |||||||
|
0.925 | 0.120 | 11 | 73152652 | intergenic variant | A/G | snv | 2.3E-03 |
|
0.810 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 1 | 160909123 | intergenic variant | C/A | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 1 | 155260340 | synonymous variant | C/T | snv | 0.34 | 0.36 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 1 | 67219915 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 |