| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
5 | 10463995 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 1070426 | downstream gene variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 8 | 11792966 | upstream gene variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
3 | 12075120 | intron variant | G/A | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 123964676 | intron variant | C/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.160 | 5 | 124996410 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2010 | 2013 | |||||||||
|
3 | 125594708 | missense variant | G/T | snv | 2.0E-05 | 5.6E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
9 | 126703046 | non coding transcript exon variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
6 | 127131790 | intron variant | C/T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 129540247 | intron variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
3 | 130418627 | intron variant | G/A | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
7 | 131768766 | intergenic variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
7 | 134201557 | missense variant | G/T | snv | 3.2E-05 | 2.0E-04 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
2 | 142202362 | intergenic variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
9 | 14859403 | missense variant | C/A;T | snv | 5.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
5 | 154163906 | intron variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 170869381 | intergenic variant | G/T | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.080 | 1 | 177883445 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 177886382 | intron variant | C/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 177904075 | intron variant | G/T | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||||
|
1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 4 | 2010 | 2013 |