| 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 | 0.080 | 4 | 116449550 | intergenic variant | C/T | snv | 2.0E-03 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 5 | 140661602 | non coding transcript exon variant | G/A | snv | 4.4E-03 | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.720 | 0.667 | 1 | 2013 | 2018 | |||||||||
|
1.000 | 0.080 | 1 | 98200569 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 17 | 49267824 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 19 | 41479679 | non coding transcript exon variant | G/A | snv | 0.42 |
|
0.720 | 0.500 | 1 | 2013 | 2018 | ||||||||
|
0.925 | 0.080 | 22 | 40040969 | 3 prime UTR variant | G/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 9977740 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 8 | 127519628 | intergenic variant | G/A | snv | 0.80 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 7 | 20954872 | intron variant | A/G | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 1 | 154861707 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 22 | 28725027 | missense variant | C/T | snv | 1.4E-04 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 22 | 28711986 | stop gained | C/A;G;T | snv | 8.0E-06; 4.0E-06; 7.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.360 | 10 | 87931091 | splice donor variant | T/A;C | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 7 | 118064652 | intergenic variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 8 | 126912414 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 |
|
0.710 | 1.000 | 1 | 2009 | 2010 | ||||||||
|
0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 |
|
0.740 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
0.925 | 0.080 | 12 | 114247766 | intergenic variant | A/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 11 | 69243184 | intergenic variant | T/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2008 | 2008 |