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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 |
|
0.810 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.925 | 0.120 | 5 | 142099500 | regulatory region variant | A/C | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 17 | 42418584 | intron variant | A/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 4 | 41751113 | intron variant | A/C | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 9 | 114856029 | intron variant | A/C | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 16 | 50707551 | intron variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 5 | 85462322 | upstream gene variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | 16 | 50732216 | splice donor variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.320 | 6 | 32408694 | upstream gene variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 19 | 1123379 | intron variant | A/C | snv | 0.25 |
|
0.710 | 1.000 | 1 | 2008 | 2010 | ||||||||
|
1.000 | 0.040 | 3 | 49421681 | non coding transcript exon variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 16 | 50652646 | downstream gene variant | A/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.120 | 17 | 42355962 | intron variant | A/C | snv | 0.36 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 5 | 40393503 | intergenic variant | A/C;G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 17 | 42418754 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 50793690 | intron variant | A/C;G | snv | 4.0E-06; 0.79 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 6 | 166984583 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 10 | 62655424 | missense variant | A/C;G | snv | 0.80 |
|
0.810 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 19 | 1124836 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 1 | 67219915 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 5 | 40431081 | non coding transcript exon variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 16 | 50645404 | 3 prime UTR variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 |
|
0.830 | 1.000 | 6 | 2007 | 2019 | ||||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
0.900 | 0.961 | 4 | 2007 | 2020 |