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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 10291344 | downstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
4 | 10401921 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
4 | 10355824 | intergenic variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
5 | 8652758 | intergenic variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 25607137 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
4 | 10084564 | intron variant | T/G | snv | 0.35 | 0.33 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
15 | 99936478 | intergenic variant | C/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
15 | 99951677 | regulatory region variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
4 | 88038770 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
4 | 9856332 | intron variant | G/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
4 | 10048051 | intron variant | A/C | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
4 | 9850251 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
12 | 117873938 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
4 | 10050048 | intron variant | A/C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 4512745 | intron variant | T/C | snv | 3.3E-03 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
10 | 725592 | intergenic variant | G/A | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.800 | 1.000 | 1 | 2008 | 2019 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | |||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2009 | 2015 | ||||||||
|
0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2009 | 2010 | ||||||||
|
0.827 | 0.240 | 4 | 9992591 | intron variant | C/T | snv | 0.82 |
|
0.800 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.827 | 0.200 | 4 | 9920543 | missense variant | C/T | snv | 0.24 | 0.29 |
|
0.800 | 1.000 | 2 | 2008 | 2016 | |||||||
|
0.827 | 0.280 | 4 | 10000237 | intron variant | G/A | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.160 | 4 | 9914117 | intron variant | C/T | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.851 | 0.240 | 4 | 88109768 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 |