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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.200 | 6 | 33092219 | non coding transcript exon variant | T/G | snv | 0.33 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 0.966 | 3 | 2007 | 2017 | ||||||||
|
0.790 | 0.400 | 6 | 32293475 | missense variant | T/G | snv | 6.0E-02 | 6.4E-02 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.827 | 0.240 | 6 | 32683340 | intergenic variant | T/G | snv | 0.50 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.827 | 0.320 | 6 | 32659937 | 3 prime UTR variant | T/G | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.851 | 0.200 | 6 | 31150734 | missense variant | T/G | snv | 0.23 | 0.21 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 30870911 | intron variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 |
|
0.700 | 1.000 | 2 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 137906227 | upstream gene variant | T/G | snv | 3.3E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.925 | 0.200 | 6 | 32867481 | regulatory region variant | T/G | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 1 | 113553475 | intron variant | T/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 30242025 | splice region variant | T/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 6 | 28247863 | intron variant | T/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 32443599 | intron variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.320 | 6 | 32437101 | upstream gene variant | T/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 31284692 | intron variant | T/G | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32697103 | regulatory region variant | T/G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 9 | 34670991 | intron variant | T/G | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 32377912 | intron variant | T/G | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 33089467 | 3 prime UTR variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32249114 | intergenic variant | T/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 29685552 | upstream gene variant | T/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 33339623 | downstream gene variant | T/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32268118 | intron variant | T/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |