| 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 | 8 | 109831384 | intergenic variant | C/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 8 | 109844252 | intergenic variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 8 | 109865933 | intergenic variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.160 | 9 | 110257228 | upstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.080 | 13 | 110308365 | intron variant | A/G | snv | 0.42 |
|
0.810 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.820 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 110569988 | intron variant | C/T | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 11069033 | intron variant | C/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | X | 110695977 | intron variant | T/G | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 19 | 11084354 | downstream gene variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.160 | 12 | 110912851 | intron variant | A/G | snv | 7.1E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 |
|
0.720 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
1.000 | 0.040 | 12 | 110919270 | intron variant | T/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 12 | 110929440 | intergenic variant | C/G;T | snv | 4.6E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 |
|
0.730 | 1.000 | 1 | 2010 | 2020 | ||||||||
|
1.000 | 0.040 | 12 | 111241410 | intron variant | C/T | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.200 | 12 | 111269073 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.820 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 |
|
0.710 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.925 | 0.120 | 12 | 111730205 | intron variant | G/A | snv | 5.9E-03 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.900 | 1.000 | 1 | 2010 | 2020 | |||||||
|
1.000 | 0.040 | 12 | 112030402 | intron variant | C/T | snv | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 12 | 112136812 | intron variant | C/T | snv | 5.9E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |