| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 227850659 | intergenic variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 10 | 2009 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 6 | 2009 | 2019 | |||||||||
|
0.790 | 0.240 | 15 | 74785026 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 5 | 2009 | 2018 | |||||||||
|
1.000 | 0.040 | 10 | 61764833 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
0.925 | 0.040 | 17 | 49363104 | intron variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
1.000 | 0.040 | 15 | 74833304 | downstream gene variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 |
|
0.700 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.925 | 0.160 | 3 | 41871159 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2009 | 2017 | |||||||||
|
0.882 | 0.040 | 10 | 18419869 | intron variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 114914926 | regulatory region variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
0.882 | 0.080 | 12 | 89615182 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
0.925 | 0.040 | 11 | 16895672 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 3 | 169448100 | intron variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 9 | 127857358 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 9 | 2011 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 9 | 2011 | 2018 | ||||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.700 | 1.000 | 7 | 2011 | 2019 | ||||||||
|
20 | 10988382 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 7 | 2011 | 2018 | ||||||||||
|
0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 6 | 2011 | 2018 | ||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.700 | 1.000 | 6 | 2011 | 2018 | |||||||
|
0.925 | 0.080 | 15 | 90894158 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 6 | 2011 | 2018 | |||||||||
|
0.925 | 0.080 | 11 | 100722807 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 6 | 2011 | 2018 | |||||||||
|
5 | 158418394 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 5 | 2011 | 2018 | |||||||||||
|
12 | 115114632 | intergenic variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 5 | 2011 | 2018 |