| 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 | 0.120 | 12 | 57698305 | intron variant | -/ACTT | delins | 0.61 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.752 | 0.360 | 22 | 23893562 | intron variant | -/ATTC | delins |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.120 | 6 | 33090337 | downstream gene variant | -/ATTT | delins | 4.3E-04 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 6 | 32622847 | TF binding site variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.120 | 6 | 32668286 | 5 prime UTR variant | -/CA | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.120 | 4 | 87975555 | non coding transcript exon variant | -/G | delins |
|
0.020 | 0.500 | 2 | 2014 | 2015 | |||||||||
|
1.000 | 0.120 | 13 | 113919624 | non coding transcript exon variant | -/G | ins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.120 | 21 | 44230126 | intron variant | -/G | delins | 1.7E-04 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 21 | 44230126 | intron variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.120 | 6 | 33339623 | downstream gene variant | -/G;TG | ins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.776 | 0.320 | 8 | 118952749 | upstream gene variant | A/C | snv | 9.6E-02 |
|
0.050 | 0.800 | 5 | 2014 | 2019 | ||||||||
|
0.925 | 0.200 | 6 | 31605179 | intergenic variant | A/C | snv | 0.34 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.827 | 0.160 | 7 | 128928906 | intergenic variant | A/C | snv | 0.28 |
|
0.030 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.776 | 0.360 | 6 | 22303975 | intron variant | A/C | snv | 0.65 |
|
0.020 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.827 | 0.320 | 6 | 32438565 | upstream gene variant | A/C | snv | 0.59 |
|
0.700 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 30105418 | non coding transcript exon variant | A/C | snv | 0.73 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.882 | 0.200 | 1 | 45336998 | intron variant | A/C | snv | 0.58 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.882 | 0.160 | 6 | 31961237 | missense variant | A/C | snv | 0.76 | 0.78 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
0.925 | 0.120 | 6 | 31116393 | missense variant | A/C | snv | 0.21 | 0.17 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 1 | 9348900 | intron variant | A/C | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.200 | 8 | 6538661 | intron variant | A/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 7 | 131676169 | intergenic variant | A/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 161053934 | intron variant | A/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 6 | 32773079 | intergenic variant | A/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |