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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 6 | 104958399 | intron variant | A/C | snv | 0.10 |
|
0.810 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 1 | 143653074 | upstream gene variant | A/C | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.120 | 14 | 73192840 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 142739784 | upstream gene variant | A/C | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 142698925 | downstream gene variant | A/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 14 | 22473159 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 38304355 | upstream gene variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 38302014 | upstream gene variant | A/C | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.120 | 17 | 35003131 | 3 prime UTR variant | A/C | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 38316814 | downstream gene variant | A/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 38329947 | upstream gene variant | A/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.080 | 1 | 7984930 | missense variant | A/C | snv | 1.4E-04 | 5.9E-04 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.040 | 14 | 22470475 | intron variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 2 | 15938513 | non coding transcript exon variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 14 | 22484872 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 7 | 142780878 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.200 | 1 | 26428582 | 3 prime UTR variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv |
|
0.100 | 1.000 | 15 | 2008 | 2019 | |||||||||
|
0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv |
|
0.050 | 1.000 | 5 | 1998 | 2013 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 22 | 28689164 | missense variant | A/C;G;T | snv | 1.3E-05; 7.3E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | |||||||||
|
0.882 | 0.080 | 1 | 114716848 | upstream gene variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 |