| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.710 | 1.000 | 0 | 2006 | 2006 | ||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.730 | 1.000 | 0 | 2006 | 2010 | ||||||||
|
0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv |
|
0.720 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.882 | 0.120 | 17 | 39725125 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 5 | 2004 | 2013 | ||||||||
|
0.882 | 0.120 | 17 | 48334138 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 9 | 16865701 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 17 | 61970281 | intron variant | A/G | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 16 | 68833362 | missense variant | A/G | snv | 4.4E-05 | 1.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 17 | 43082529 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 13 | 32319134 | missense variant | A/G | snv | 1.6E-03 | 1.6E-03 |
|
0.700 | 0 | ||||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2004 | 2016 | ||||||||
|
1.000 | 0.120 | 17 | 61852376 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.120 | 9 | 16862282 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 17 | 43063937 | missense variant | A/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 17 | 43124032 | stop gained | A/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 13 | 32339386 | frameshift variant | AA/-;A | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 13 | 32341169 | frameshift variant | AAGAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 7 | 5978675 | frameshift variant | AAGTT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 3 | 2008 | 2013 | |||||||||
|
0.882 | 0.120 | 19 | 1221320 | missense variant | C/A;G;T | snv | 2.9E-05; 1.2E-04 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 17 | 43067608 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv |
|
0.700 | 0 |