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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 1 | 22371954 | intergenic variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 4 | 2008 | 2011 | ||||||||
|
18 | 62387624 | 3 prime UTR variant | A/C;T | snv |
|
0.800 | 1.000 | 4 | 2009 | 2018 | |||||||||||
|
13 | 42377313 | intron variant | C/T | snv | 0.39 |
|
0.800 | 1.000 | 4 | 2009 | 2018 | ||||||||||
|
11 | 27484130 | downstream gene variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 3 | 2012 | 2018 | ||||||||||
|
2 | 54457420 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 3 | 2008 | 2018 | ||||||||||
|
5 | 89080244 | intron variant | A/C | snv | 0.57 |
|
0.800 | 1.000 | 3 | 2009 | 2018 | ||||||||||
|
8 | 118995181 | upstream gene variant | T/A | snv | 0.67 |
|
0.800 | 1.000 | 3 | 2009 | 2013 | ||||||||||
|
13 | 42554441 | regulatory region variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 3 | 2014 | 2018 | ||||||||||
|
13 | 42541997 | intergenic variant | C/T | snv | 0.79 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
7 | 121343289 | downstream gene variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||||
|
0.882 | 0.160 | 6 | 151612040 | intron variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
8 | 119000461 | intron variant | C/G | snv | 0.65 |
|
0.800 | 1.000 | 2 | 2009 | 2018 | ||||||||||
|
11 | 68495902 | intron variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2014 | 2017 | ||||||||||
|
6 | 126845927 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2018 | |||||||||||
|
7 | 121145010 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
2 | 165744536 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||||
|
7 | 38096675 | intergenic variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2009 | 2018 | |||||||||||
|
1.000 | 0.080 | 12 | 53334171 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2009 | 2012 | |||||||||
|
1.000 | 0.040 | 7 | 121329715 | missense variant | G/A;T | snv | 0.44; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.807 | 0.160 | 1 | 22373858 | intergenic variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | |||||||
|
1 | 22120823 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2014 | 2017 | ||||||||||
|
7 | 121334711 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2012 | 2018 | |||||||||||
|
2 | 165721604 | intergenic variant | T/G | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2014 | 2017 | ||||||||||
|
16 | 86681109 | regulatory region variant | G/C | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2014 | 2018 |